Canonical Allele Identifier: CA127768

Gene: ANK2

Linked Data

• ClinVar Variation Id: 18059
• ClinVar RCV Id: RCV000019676 ; RCV000234999 ; RCV000211890 ; RCV000474063 ; RCV000620379 ; RCV001145853 ; RCV001082560 ; RCV000852983 ; RCV001841250 ; RCV003904850
• dbSNP Id: rs121912706
• ExAC: 4:114294462 C / T
• gnomAD v2: 4-114294462-C-T
• gnomAD v3: 4-113373306-C-T
• gnomAD v4: 4-113373306-C-T
• COSMIC: COSM4121493 ; COSM4121494
• MyVariant Identifiers: chr4:g.114294462C>T (hg19) ; chr4:g.113373306C>T (hg38)
• PubMed: PMID:15178757 ; PMID:16253912 ; PMID:22581653 ; PMID:23631430 ; PMID:23861362 ; PMID:24025405 ; PMID:25351510 ; PMID:27301361 ; PMID:27435932

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.113373306C>T , CM000666.2:g.113373306C>T	GRCh38
NC_000004.11:g.114294462C>T , CM000666.1:g.114294462C>T	GRCh37
NC_000004.10:g.114513911C>T	NCBI36
NG_009006.2:g.560224C>T , LRG_327:g.560224C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506344.6:c.11950C>T	ENSP00000422888.2:p.Arg3984Trp
ENST00000705785.1:c.5542C>T	ENSP00000516169.1:p.Arg1848Trp
ENST00000510275.8:c.2037+3501C>T	ENSP00000421023.4:n.2037+3501C>T
ENST00000612754.2:c.2641C>T	ENSP00000482888.2:p.Arg881Trp
ENST00000681990.1:n.3098C>T
ENST00000682049.1:n.2306C>T
ENST00000682959.1:n.6334C>T
ENST00000683389.1:n.1879C>T
ENST00000683777.1:n.2519C>T
ENST00000683826.1:n.3735+3501C>T
ENST00000683893.1:n.1822C>T
ENST00000683908.1:n.2215C>T
ENST00000683972.1:n.8561C>T
ENST00000684225.1:n.3187C>T
ENST00000684230.1:n.3472+133C>T
ENST00000684378.1:n.4455C>T
ENST00000684470.1:n.3698C>T
ENST00000684730.1:n.5104C>T
ENST00000357077.9:c.11716C>T MANE Select	ENSP00000349588.4:p.Arg3906Trp
ENST00000503423.6:c.11554C>T	ENSP00000421011.2:p.Arg3852Trp
ENST00000505342.6:c.2848C>T	ENSP00000422498.2:p.Arg950Trp
ENST00000510275.7:c.1264C>T	ENSP00000421023.3:p.Arg422Trp
ENST00000671704.1:c.5275C>T	ENSP00000500926.1:p.Arg1759Trp
ENST00000671727.1:c.5455C>T	ENSP00000500102.1:p.Arg1819Trp
ENST00000671756.1:c.5277+133C>T	ENSP00000500712.1:n.5277+133C>T
ENST00000671762.1:c.5590C>T	ENSP00000500954.1:p.Arg1864Trp
ENST00000671793.1:c.5491C>T	ENSP00000499928.1:p.Arg1831Trp
ENST00000671809.1:c.11590C>T	ENSP00000500872.1:p.Arg3864Trp
ENST00000671825.1:c.5398C>T	ENSP00000500459.1:p.Arg1800Trp
ENST00000671854.1:c.5200C>T	ENSP00000500833.1:p.Arg1734Trp
ENST00000671863.1:c.*954C>T	ENSP00000500855.1:n.*954C>T
ENST00000671882.1:c.11428-1458C>T	ENSP00000499887.1:n.11428-1458C>T
ENST00000671893.1:c.5055+133C>T	ENSP00000499986.1:n.5055+133C>T
ENST00000671906.1:c.11530C>T	ENSP00000499953.1:p.Arg3844Trp
ENST00000671951.1:c.5176C>T	ENSP00000500528.1:p.Arg1726Trp
ENST00000671971.1:c.11761C>T	ENSP00000499832.1:p.Arg3921Trp
ENST00000672045.1:c.5299C>T	ENSP00000499959.1:p.Arg1767Trp
ENST00000672068.1:c.11647C>T	ENSP00000499902.1:p.Arg3883Trp
ENST00000672088.1:c.5275C>T	ENSP00000499837.1:p.Arg1759Trp
ENST00000672090.1:c.11554C>T	ENSP00000500540.1:p.Arg3852Trp
ENST00000672177.1:c.5311C>T	ENSP00000500918.1:p.Arg1771Trp
ENST00000672209.1:c.11647C>T	ENSP00000499982.1:p.Arg3883Trp
ENST00000672221.1:c.5296C>T	ENSP00000500473.1:p.Arg1766Trp
ENST00000672240.1:c.11797C>T	ENSP00000500548.1:p.Arg3933Trp
ENST00000672246.1:c.5262+133C>T	ENSP00000499990.1:n.5262+133C>T
ENST00000672251.1:c.11518C>T	ENSP00000500580.1:p.Arg3840Trp
ENST00000672312.1:c.5299C>T	ENSP00000500378.1:p.Arg1767Trp
ENST00000672315.1:c.5292+3501C>T	ENSP00000500780.1:n.5292+3501C>T
ENST00000672350.1:c.5236C>T	ENSP00000500420.1:p.Arg1746Trp
ENST00000672356.1:c.5176C>T	ENSP00000500544.1:p.Arg1726Trp
ENST00000672362.1:c.5527C>T	ENSP00000500522.1:p.Arg1843Trp
ENST00000672366.1:c.5362C>T	ENSP00000500937.1:p.Arg1788Trp
ENST00000672402.1:c.5491C>T	ENSP00000500881.1:p.Arg1831Trp
ENST00000672411.1:c.3003+133C>T	ENSP00000499979.1:n.3003+133C>T
ENST00000672502.1:c.11617C>T	ENSP00000499870.1:p.Arg3873Trp
ENST00000672684.1:c.5200C>T	ENSP00000499943.1:p.Arg1734Trp
ENST00000672696.1:c.5469+133C>T	ENSP00000499828.1:n.5469+133C>T
ENST00000672731.1:c.5253+133C>T	ENSP00000500908.1:n.5253+133C>T
ENST00000672759.1:c.5176C>T	ENSP00000499881.1:p.Arg1726Trp
ENST00000672779.1:c.5506C>T	ENSP00000499869.1:p.Arg1836Trp
ENST00000672793.1:c.5392C>T	ENSP00000500150.1:p.Arg1798Trp
ENST00000672830.1:c.11653C>T	ENSP00000500222.1:p.Arg3885Trp
ENST00000672854.1:c.5263C>T	ENSP00000500311.1:p.Arg1755Trp
ENST00000672880.1:c.5299C>T	ENSP00000500866.1:p.Arg1767Trp
ENST00000672915.1:c.2848C>T	ENSP00000500622.1:p.Arg950Trp
ENST00000672930.1:c.11532+133C>T	ENSP00000499913.1:n.11532+133C>T
ENST00000672934.1:c.11455C>T	ENSP00000500645.1:p.Arg3819Trp
ENST00000672955.1:c.5275C>T	ENSP00000500527.1:p.Arg1759Trp
ENST00000672965.1:c.5335C>T	ENSP00000499891.1:p.Arg1779Trp
ENST00000672986.1:c.4879C>T	ENSP00000499967.1:p.Arg1627Trp
ENST00000672990.1:c.5335C>T	ENSP00000500275.1:p.Arg1779Trp
ENST00000673044.1:c.5292+3501C>T	ENSP00000500933.1:n.5292+3501C>T
ENST00000673048.1:c.3010C>T	ENSP00000500832.1:p.Arg1004Trp
ENST00000673109.1:c.11431C>T	ENSP00000500265.1:p.Arg3811Trp
ENST00000673231.1:c.3025C>T	ENSP00000500111.1:p.Arg1009Trp
ENST00000673240.1:c.5506C>T	ENSP00000499996.1:p.Arg1836Trp
ENST00000673255.1:c.5299C>T	ENSP00000500423.1:p.Arg1767Trp
ENST00000673298.1:c.11554C>T	ENSP00000500245.1:p.Arg3852Trp
ENST00000673334.1:c.11448+3501C>T	ENSP00000500854.1:n.11448+3501C>T
ENST00000673353.1:c.2989C>T	ENSP00000500007.1:p.Arg997Trp
ENST00000673363.1:c.11662C>T	ENSP00000500539.1:p.Arg3888Trp
ENST00000673430.1:c.5392C>T	ENSP00000500269.1:p.Arg1798Trp
ENST00000673453.1:c.5298+133C>T	ENSP00000500112.1:n.5298+133C>T
ENST00000673536.1:c.4969C>T	ENSP00000500524.1:p.Arg1657Trp
ENST00000673538.1:c.*954C>T	ENSP00000500842.1:n.*954C>T
ENST00000673546.1:c.5236C>T	ENSP00000500843.1:p.Arg1746Trp
ENST00000673555.1:c.11625+133C>T	ENSP00000500947.1:n.11625+133C>T
ENST00000673573.1:c.11491C>T	ENSP00000500883.1:p.Arg3831Trp
ENST00000264366.10:c.11617C>T	ENSP00000264366.6:p.Arg3873Trp
ENST00000357077.8:c.11716C>T	ENSP00000349588.4:p.Arg3906Trp
ENST00000394537.7:c.5461C>T	ENSP00000378044.3:p.Arg1821Trp
ENST00000505342.5:c.2746C>T	ENSP00000422498.1:p.Arg916Trp
ENST00000506722.5:c.5434C>T	ENSP00000421067.1:p.Arg1812Trp
ENST00000509550.5:c.2989C>T	ENSP00000426944.1:p.Arg997Trp
ENST00000510275.6:c.1510C>T	ENSP00000421023.2:p.Arg504Trp
ENST00000514960.5:c.2558C>T
ENST00000612754.1:c.*3077C>T	ENSP00000482888.1:n.*3077C>T
NM_001127493.1:c.5434C>T , LRG_327t2:c.5434C>T	NP_001120965.1:p.Arg1812Trp
NM_001148.4:c.11716C>T , LRG_327t1:c.11716C>T	NP_001139.3:p.Arg3906Trp
NM_020977.3:c.5461C>T	NP_066187.2:p.Arg1821Trp
XM_005262942.3:c.11842C>T	XP_005262999.1:p.Arg3948Trp
XM_005262945.1:c.11617C>T	XP_005263002.1:p.Arg3873Trp
XM_005262948.3:c.5458C>T	XP_005263005.1:p.Arg1820Trp
XM_006714188.2:c.11896C>T	XP_006714251.1:p.Arg3966Trp
XM_006714189.2:c.11860C>T	XP_006714252.1:p.Arg3954Trp
XM_006714190.2:c.5608C>T	XP_006714253.1:p.Arg1870Trp
XM_006714191.2:c.5548C>T	XP_006714254.1:p.Arg1850Trp
XM_006714192.2:c.5572C>T	XP_006714255.1:p.Arg1858Trp
XM_006714193.2:c.5548C>T	XP_006714256.1:p.Arg1850Trp
XM_006714194.2:c.11836C>T	XP_006714257.1:p.Arg3946Trp
XM_011531891.1:c.11881C>T	XP_011530193.1:p.Arg3961Trp
NM_001127493.2:c.5434C>T	NP_001120965.1:p.Arg1812Trp
NM_001148.5:c.11716C>T	NP_001139.3:p.Arg3906Trp
NM_001354225.1:c.5473C>T	NP_001341154.1:p.Arg1825Trp
NM_001354228.1:c.5455C>T	NP_001341157.1:p.Arg1819Trp
NM_001354230.1:c.5440C>T	NP_001341159.1:p.Arg1814Trp
NM_001354231.1:c.5596C>T	NP_001341160.1:p.Arg1866Trp
NM_001354232.1:c.5590C>T	NP_001341161.1:p.Arg1864Trp
NM_001354235.1:c.5551C>T	NP_001341164.1:p.Arg1851Trp
NM_001354236.1:c.5359C>T	NP_001341165.1:p.Arg1787Trp
NM_001354237.1:c.5539C>T	NP_001341166.1:p.Arg1847Trp
NM_001354239.1:c.5524C>T	NP_001341168.1:p.Arg1842Trp
NM_001354240.1:c.5506C>T	NP_001341169.1:p.Arg1836Trp
NM_001354241.1:c.5506C>T	NP_001341170.1:p.Arg1836Trp
NM_001354242.1:c.5503C>T	NP_001341171.1:p.Arg1835Trp
NM_001354243.1:c.5491C>T	NP_001341172.1:p.Arg1831Trp
NM_001354244.1:c.5488C>T	NP_001341173.1:p.Arg1830Trp
NM_001354245.1:c.5299C>T	NP_001341174.1:p.Arg1767Trp
NM_001354246.1:c.5458C>T	NP_001341175.1:p.Arg1820Trp
NM_001354249.1:c.5275C>T	NP_001341178.1:p.Arg1759Trp
NM_001354252.1:c.5431C>T	NP_001341181.1:p.Arg1811Trp
NM_001354253.1:c.5236C>T	NP_001341182.1:p.Arg1746Trp
NM_001354254.1:c.5410C>T	NP_001341183.1:p.Arg1804Trp
NM_001354255.1:c.5398C>T	NP_001341184.1:p.Arg1800Trp
NM_001354256.1:c.5395C>T	NP_001341185.1:p.Arg1799Trp
NM_001354257.1:c.5200C>T	NP_001341186.1:p.Arg1734Trp
NM_001354258.1:c.5362C>T	NP_001341187.1:p.Arg1788Trp
NM_001354260.1:c.5176C>T	NP_001341189.1:p.Arg1726Trp
NM_001354261.1:c.5320C>T	NP_001341190.1:p.Arg1774Trp
NM_001354262.1:c.5299C>T	NP_001341191.1:p.Arg1767Trp
NM_001354264.1:c.5296C>T	NP_001341193.1:p.Arg1766Trp
NM_001354265.1:c.5436+133C>T	NP_001341194.1:n.5436+133C>T
NM_001354266.1:c.5275C>T	NP_001341195.1:p.Arg1759Trp
NM_001354267.1:c.5275C>T	NP_001341196.1:p.Arg1759Trp
NM_001354268.1:c.5263C>T	NP_001341197.1:p.Arg1755Trp
NM_001354269.1:c.5248C>T	NP_001341198.1:p.Arg1750Trp
NM_001354270.1:c.5236C>T	NP_001341199.1:p.Arg1746Trp
NM_001354271.1:c.5176C>T	NP_001341200.1:p.Arg1726Trp
NM_001354272.1:c.5310+133C>T	NP_001341201.1:n.5310+133C>T
NM_001354273.1:c.5161C>T	NP_001341202.1:p.Arg1721Trp
NM_001354274.1:c.5298+133C>T	NP_001341203.1:n.5298+133C>T
NM_001354275.1:c.5277+133C>T	NP_001341204.1:n.5277+133C>T
NM_001354276.1:c.5253+133C>T	NP_001341205.1:n.5253+133C>T
NM_001354277.1:c.5055+133C>T	NP_001341206.1:n.5055+133C>T
NM_001354278.1:c.2989C>T	NP_001341207.1:p.Arg997Trp
NM_001354279.1:c.3025C>T	NP_001341208.1:p.Arg1009Trp
NM_001354280.1:c.3010C>T	NP_001341209.1:p.Arg1004Trp
NM_001354281.1:c.2989C>T	NP_001341210.1:p.Arg997Trp
NM_001354282.1:c.3003+133C>T	NP_001341211.1:n.3003+133C>T
NM_020977.4:c.5461C>T	NP_066187.2:p.Arg1821Trp
XM_005262945.3:c.11617C>T	XP_005263002.1:p.Arg3873Trp
XM_017008067.1:c.11950C>T	XP_016863556.1:p.Arg3984Trp
XM_017008069.1:c.11926C>T	XP_016863558.1:p.Arg3976Trp
XM_017008071.2:c.11836C>T	XP_016863560.1:p.Arg3946Trp
XM_017008072.2:c.11812C>T	XP_016863561.1:p.Arg3938Trp
XM_017008073.2:c.11809C>T	XP_016863562.1:p.Arg3937Trp
XM_017008074.2:c.11782C>T	XP_016863563.1:p.Arg3928Trp
XM_017008075.2:c.11746C>T	XP_016863564.1:p.Arg3916Trp
XM_017008076.2:c.11716C>T	XP_016863565.1:p.Arg3906Trp
XM_017008077.2:c.11623C>T	XP_016863566.1:p.Arg3875Trp
XM_017008078.2:c.5461C>T	XP_016863567.1:p.Arg1821Trp
XM_017008080.2:c.5311C>T	XP_016863569.1:p.Arg1771Trp
XM_024454016.1:c.11845C>T	XP_024309784.1:p.Arg3949Trp
XM_024454017.1:c.5590C>T	XP_024309785.1:p.Arg1864Trp
XM_024454018.1:c.5455C>T	XP_024309786.1:p.Arg1819Trp
XM_024454019.1:c.5440C>T	XP_024309787.1:p.Arg1814Trp
XM_024454020.1:c.5362C>T	XP_024309788.1:p.Arg1788Trp
XM_024454021.1:c.5359C>T	XP_024309789.1:p.Arg1787Trp
XM_024454022.1:c.5299C>T	XP_024309790.1:p.Arg1767Trp
XM_024454023.1:c.5161C>T	XP_024309791.1:p.Arg1721Trp
NM_001148.6:c.11716C>T MANE Select	NP_001139.3:p.Arg3906Trp
NM_001127493.3:c.5434C>T	NP_001120965.1:p.Arg1812Trp
NM_001354225.2:c.5473C>T	NP_001341154.1:p.Arg1825Trp
NM_001354228.2:c.5455C>T	NP_001341157.1:p.Arg1819Trp
NM_001354230.2:c.5440C>T	NP_001341159.1:p.Arg1814Trp
NM_001354231.2:c.5596C>T	NP_001341160.1:p.Arg1866Trp
NM_001354232.2:c.5590C>T	NP_001341161.1:p.Arg1864Trp
NM_001354235.2:c.5551C>T	NP_001341164.1:p.Arg1851Trp
NM_001354236.2:c.5359C>T	NP_001341165.1:p.Arg1787Trp
NM_001354237.2:c.5539C>T	NP_001341166.1:p.Arg1847Trp
NM_001354239.2:c.5524C>T	NP_001341168.1:p.Arg1842Trp
NM_001354240.2:c.5506C>T	NP_001341169.1:p.Arg1836Trp
NM_001354241.2:c.5506C>T	NP_001341170.1:p.Arg1836Trp
NM_001354242.2:c.5503C>T	NP_001341171.1:p.Arg1835Trp
NM_001354243.2:c.5491C>T	NP_001341172.1:p.Arg1831Trp
NM_001354244.2:c.5488C>T	NP_001341173.1:p.Arg1830Trp
NM_001354245.2:c.5299C>T	NP_001341174.1:p.Arg1767Trp
NM_001354246.2:c.5458C>T	NP_001341175.1:p.Arg1820Trp
NM_001354249.2:c.5275C>T	NP_001341178.1:p.Arg1759Trp
NM_001354252.2:c.5431C>T	NP_001341181.1:p.Arg1811Trp
NM_001354253.2:c.5236C>T	NP_001341182.1:p.Arg1746Trp
NM_001354254.2:c.5410C>T	NP_001341183.1:p.Arg1804Trp
NM_001354255.2:c.5398C>T	NP_001341184.1:p.Arg1800Trp
NM_001354256.2:c.5395C>T	NP_001341185.1:p.Arg1799Trp
NM_001354257.2:c.5200C>T	NP_001341186.1:p.Arg1734Trp
NM_001354258.2:c.5362C>T	NP_001341187.1:p.Arg1788Trp
NM_001354260.2:c.5176C>T	NP_001341189.1:p.Arg1726Trp
NM_001354261.2:c.5320C>T	NP_001341190.1:p.Arg1774Trp
NM_001354262.2:c.5299C>T	NP_001341191.1:p.Arg1767Trp
NM_001354264.2:c.5296C>T	NP_001341193.1:p.Arg1766Trp
NM_001354265.2:c.5436+133C>T	NP_001341194.1:n.5436+133C>T
NM_001354266.2:c.5275C>T	NP_001341195.1:p.Arg1759Trp
NM_001354267.2:c.5275C>T	NP_001341196.1:p.Arg1759Trp
NM_001354268.2:c.5263C>T	NP_001341197.1:p.Arg1755Trp
NM_001354269.3:c.5248C>T	NP_001341198.1:p.Arg1750Trp
NM_001354270.2:c.5236C>T	NP_001341199.1:p.Arg1746Trp
NM_001354271.2:c.5176C>T	NP_001341200.1:p.Arg1726Trp
NM_001354272.2:c.5310+133C>T	NP_001341201.1:n.5310+133C>T
NM_001354273.2:c.5161C>T	NP_001341202.1:p.Arg1721Trp
NM_001354274.2:c.5298+133C>T	NP_001341203.1:n.5298+133C>T
NM_001354275.2:c.5277+133C>T	NP_001341204.1:n.5277+133C>T
NM_001354276.2:c.5253+133C>T	NP_001341205.1:n.5253+133C>T
NM_001354277.2:c.5055+133C>T	NP_001341206.1:n.5055+133C>T
NM_001354278.2:c.2989C>T	NP_001341207.1:p.Arg997Trp
NM_001354279.2:c.3025C>T	NP_001341208.1:p.Arg1009Trp
NM_001354280.2:c.3010C>T	NP_001341209.1:p.Arg1004Trp
NM_001354281.2:c.2989C>T	NP_001341210.1:p.Arg997Trp
NM_001354282.2:c.3003+133C>T	NP_001341211.1:n.3003+133C>T
NM_001386142.1:c.11482C>T	NP_001373071.1:p.Arg3828Trp
NM_001386143.1:c.5491C>T	NP_001373072.1:p.Arg1831Trp
NM_001386144.1:c.5599C>T	NP_001373073.1:p.Arg1867Trp
NM_001386146.1:c.5335C>T	NP_001373075.1:p.Arg1779Trp
NM_001386147.1:c.5287C>T	NP_001373076.1:p.Arg1763Trp
NM_001386148.2:c.5446C>T	NP_001373077.1:p.Arg1816Trp
NM_001386149.1:c.5242C>T	NP_001373078.1:p.Arg1748Trp
NM_001386150.1:c.5335C>T	NP_001373079.1:p.Arg1779Trp
NM_001386151.1:c.5269C>T	NP_001373080.1:p.Arg1757Trp
NM_001386152.1:c.5412+3501C>T	NP_001373081.1:n.5412+3501C>T
NM_001386153.1:c.5242C>T	NP_001373082.1:p.Arg1748Trp
NM_001386154.1:c.5227C>T	NP_001373083.1:p.Arg1743Trp
NM_001386156.1:c.5200C>T	NP_001373085.1:p.Arg1734Trp
NM_001386157.1:c.5077C>T	NP_001373086.1:p.Arg1693Trp
NM_001386158.1:c.4978C>T	NP_001373087.1:p.Arg1660Trp
NM_001386160.1:c.5305C>T	NP_001373089.1:p.Arg1769Trp
NM_001386161.1:c.5395C>T	NP_001373090.1:p.Arg1799Trp
NM_001386162.1:c.5253+133C>T	NP_001373091.1:n.5253+133C>T
NM_001386166.1:c.8116C>T	NP_001373095.1:p.Arg2706Trp
NM_001386167.1:c.1954C>T	NP_001373096.1:p.Arg652Trp
NM_001386174.1:c.11950C>T	NP_001373103.1:p.Arg3984Trp
NM_001386175.1:c.11926C>T	NP_001373104.1:p.Arg3976Trp
NM_001386186.2:c.5446C>T	NP_001373115.1:p.Arg1816Trp
NM_001386187.2:c.5326C>T	NP_001373116.1:p.Arg1776Trp
NM_020977.5:c.5461C>T	NP_066187.2:p.Arg1821Trp