Canonical Allele Identifier: CA357943559

Gene: ANK2

Linked Data

• dbSNP Id: rs770001324
• MyVariant Identifiers: chr4:g.114294463G>T (hg19) ; chr4:g.113373307G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.113373307G>T , CM000666.2:g.113373307G>T	GRCh38
NC_000004.11:g.114294463G>T , CM000666.1:g.114294463G>T	GRCh37
NC_000004.10:g.114513912G>T	NCBI36
NG_009006.2:g.560225G>T , LRG_327:g.560225G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506344.6:c.11951G>T	ENSP00000422888.2:p.Arg3984Leu
ENST00000705785.1:c.5543G>T	ENSP00000516169.1:p.Arg1848Leu
ENST00000510275.8:c.2037+3502G>T	ENSP00000421023.4:n.2037+3502G>T
ENST00000612754.2:c.2642G>T	ENSP00000482888.2:p.Arg881Leu
ENST00000681990.1:n.3099G>T
ENST00000682049.1:n.2307G>T
ENST00000682959.1:n.6335G>T
ENST00000683389.1:n.1880G>T
ENST00000683777.1:n.2520G>T
ENST00000683826.1:n.3735+3502G>T
ENST00000683893.1:n.1823G>T
ENST00000683908.1:n.2216G>T
ENST00000683972.1:n.8562G>T
ENST00000684225.1:n.3188G>T
ENST00000684230.1:n.3472+134G>T
ENST00000684378.1:n.4456G>T
ENST00000684470.1:n.3699G>T
ENST00000684730.1:n.5105G>T
ENST00000357077.9:c.11717G>T MANE Select	ENSP00000349588.4:p.Arg3906Leu
ENST00000503423.6:c.11555G>T	ENSP00000421011.2:p.Arg3852Leu
ENST00000505342.6:c.2849G>T	ENSP00000422498.2:p.Arg950Leu
ENST00000510275.7:c.1265G>T	ENSP00000421023.3:p.Arg422Leu
ENST00000671704.1:c.5276G>T	ENSP00000500926.1:p.Arg1759Leu
ENST00000671727.1:c.5456G>T	ENSP00000500102.1:p.Arg1819Leu
ENST00000671756.1:c.5277+134G>T	ENSP00000500712.1:n.5277+134G>T
ENST00000671762.1:c.5591G>T	ENSP00000500954.1:p.Arg1864Leu
ENST00000671793.1:c.5492G>T	ENSP00000499928.1:p.Arg1831Leu
ENST00000671809.1:c.11591G>T	ENSP00000500872.1:p.Arg3864Leu
ENST00000671825.1:c.5399G>T	ENSP00000500459.1:p.Arg1800Leu
ENST00000671854.1:c.5201G>T	ENSP00000500833.1:p.Arg1734Leu
ENST00000671863.1:c.*955G>T	ENSP00000500855.1:n.*955G>T
ENST00000671882.1:c.11428-1457G>T	ENSP00000499887.1:n.11428-1457G>T
ENST00000671893.1:c.5055+134G>T	ENSP00000499986.1:n.5055+134G>T
ENST00000671906.1:c.11531G>T	ENSP00000499953.1:p.Arg3844Leu
ENST00000671951.1:c.5177G>T	ENSP00000500528.1:p.Arg1726Leu
ENST00000671971.1:c.11762G>T	ENSP00000499832.1:p.Arg3921Leu
ENST00000672045.1:c.5300G>T	ENSP00000499959.1:p.Arg1767Leu
ENST00000672068.1:c.11648G>T	ENSP00000499902.1:p.Arg3883Leu
ENST00000672088.1:c.5276G>T	ENSP00000499837.1:p.Arg1759Leu
ENST00000672090.1:c.11555G>T	ENSP00000500540.1:p.Arg3852Leu
ENST00000672177.1:c.5312G>T	ENSP00000500918.1:p.Arg1771Leu
ENST00000672209.1:c.11648G>T	ENSP00000499982.1:p.Arg3883Leu
ENST00000672221.1:c.5297G>T	ENSP00000500473.1:p.Arg1766Leu
ENST00000672240.1:c.11798G>T	ENSP00000500548.1:p.Arg3933Leu
ENST00000672246.1:c.5262+134G>T	ENSP00000499990.1:n.5262+134G>T
ENST00000672251.1:c.11519G>T	ENSP00000500580.1:p.Arg3840Leu
ENST00000672312.1:c.5300G>T	ENSP00000500378.1:p.Arg1767Leu
ENST00000672315.1:c.5292+3502G>T	ENSP00000500780.1:n.5292+3502G>T
ENST00000672350.1:c.5237G>T	ENSP00000500420.1:p.Arg1746Leu
ENST00000672356.1:c.5177G>T	ENSP00000500544.1:p.Arg1726Leu
ENST00000672362.1:c.5528G>T	ENSP00000500522.1:p.Arg1843Leu
ENST00000672366.1:c.5363G>T	ENSP00000500937.1:p.Arg1788Leu
ENST00000672402.1:c.5492G>T	ENSP00000500881.1:p.Arg1831Leu
ENST00000672411.1:c.3003+134G>T	ENSP00000499979.1:n.3003+134G>T
ENST00000672502.1:c.11618G>T	ENSP00000499870.1:p.Arg3873Leu
ENST00000672684.1:c.5201G>T	ENSP00000499943.1:p.Arg1734Leu
ENST00000672696.1:c.5469+134G>T	ENSP00000499828.1:n.5469+134G>T
ENST00000672731.1:c.5253+134G>T	ENSP00000500908.1:n.5253+134G>T
ENST00000672759.1:c.5177G>T	ENSP00000499881.1:p.Arg1726Leu
ENST00000672779.1:c.5507G>T	ENSP00000499869.1:p.Arg1836Leu
ENST00000672793.1:c.5393G>T	ENSP00000500150.1:p.Arg1798Leu
ENST00000672830.1:c.11654G>T	ENSP00000500222.1:p.Arg3885Leu
ENST00000672854.1:c.5264G>T	ENSP00000500311.1:p.Arg1755Leu
ENST00000672880.1:c.5300G>T	ENSP00000500866.1:p.Arg1767Leu
ENST00000672915.1:c.2849G>T	ENSP00000500622.1:p.Arg950Leu
ENST00000672930.1:c.11532+134G>T	ENSP00000499913.1:n.11532+134G>T
ENST00000672934.1:c.11456G>T	ENSP00000500645.1:p.Arg3819Leu
ENST00000672955.1:c.5276G>T	ENSP00000500527.1:p.Arg1759Leu
ENST00000672965.1:c.5336G>T	ENSP00000499891.1:p.Arg1779Leu
ENST00000672986.1:c.4880G>T	ENSP00000499967.1:p.Arg1627Leu
ENST00000672990.1:c.5336G>T	ENSP00000500275.1:p.Arg1779Leu
ENST00000673044.1:c.5292+3502G>T	ENSP00000500933.1:n.5292+3502G>T
ENST00000673048.1:c.3011G>T	ENSP00000500832.1:p.Arg1004Leu
ENST00000673109.1:c.11432G>T	ENSP00000500265.1:p.Arg3811Leu
ENST00000673231.1:c.3026G>T	ENSP00000500111.1:p.Arg1009Leu
ENST00000673240.1:c.5507G>T	ENSP00000499996.1:p.Arg1836Leu
ENST00000673255.1:c.5300G>T	ENSP00000500423.1:p.Arg1767Leu
ENST00000673298.1:c.11555G>T	ENSP00000500245.1:p.Arg3852Leu
ENST00000673334.1:c.11448+3502G>T	ENSP00000500854.1:n.11448+3502G>T
ENST00000673353.1:c.2990G>T	ENSP00000500007.1:p.Arg997Leu
ENST00000673363.1:c.11663G>T	ENSP00000500539.1:p.Arg3888Leu
ENST00000673430.1:c.5393G>T	ENSP00000500269.1:p.Arg1798Leu
ENST00000673453.1:c.5298+134G>T	ENSP00000500112.1:n.5298+134G>T
ENST00000673536.1:c.4970G>T	ENSP00000500524.1:p.Arg1657Leu
ENST00000673538.1:c.*955G>T	ENSP00000500842.1:n.*955G>T
ENST00000673546.1:c.5237G>T	ENSP00000500843.1:p.Arg1746Leu
ENST00000673555.1:c.11625+134G>T	ENSP00000500947.1:n.11625+134G>T
ENST00000673573.1:c.11492G>T	ENSP00000500883.1:p.Arg3831Leu
ENST00000264366.10:c.11618G>T	ENSP00000264366.6:p.Arg3873Leu
ENST00000357077.8:c.11717G>T	ENSP00000349588.4:p.Arg3906Leu
ENST00000394537.7:c.5462G>T	ENSP00000378044.3:p.Arg1821Leu
ENST00000505342.5:c.2747G>T	ENSP00000422498.1:p.Arg916Leu
ENST00000506722.5:c.5435G>T	ENSP00000421067.1:p.Arg1812Leu
ENST00000509550.5:c.2990G>T	ENSP00000426944.1:p.Arg997Leu
ENST00000510275.6:c.1511G>T	ENSP00000421023.2:p.Arg504Leu
ENST00000514960.5:c.2559G>T
ENST00000612754.1:c.*3078G>T	ENSP00000482888.1:n.*3078G>T
NM_001127493.1:c.5435G>T , LRG_327t2:c.5435G>T	NP_001120965.1:p.Arg1812Leu
NM_001148.4:c.11717G>T , LRG_327t1:c.11717G>T	NP_001139.3:p.Arg3906Leu
NM_020977.3:c.5462G>T	NP_066187.2:p.Arg1821Leu
XM_005262942.3:c.11843G>T	XP_005262999.1:p.Arg3948Leu
XM_005262945.1:c.11618G>T	XP_005263002.1:p.Arg3873Leu
XM_005262948.3:c.5459G>T	XP_005263005.1:p.Arg1820Leu
XM_006714188.2:c.11897G>T	XP_006714251.1:p.Arg3966Leu
XM_006714189.2:c.11861G>T	XP_006714252.1:p.Arg3954Leu
XM_006714190.2:c.5609G>T	XP_006714253.1:p.Arg1870Leu
XM_006714191.2:c.5549G>T	XP_006714254.1:p.Arg1850Leu
XM_006714192.2:c.5573G>T	XP_006714255.1:p.Arg1858Leu
XM_006714193.2:c.5549G>T	XP_006714256.1:p.Arg1850Leu
XM_006714194.2:c.11837G>T	XP_006714257.1:p.Arg3946Leu
XM_011531891.1:c.11882G>T	XP_011530193.1:p.Arg3961Leu
NM_001127493.2:c.5435G>T	NP_001120965.1:p.Arg1812Leu
NM_001148.5:c.11717G>T	NP_001139.3:p.Arg3906Leu
NM_001354225.1:c.5474G>T	NP_001341154.1:p.Arg1825Leu
NM_001354228.1:c.5456G>T	NP_001341157.1:p.Arg1819Leu
NM_001354230.1:c.5441G>T	NP_001341159.1:p.Arg1814Leu
NM_001354231.1:c.5597G>T	NP_001341160.1:p.Arg1866Leu
NM_001354232.1:c.5591G>T	NP_001341161.1:p.Arg1864Leu
NM_001354235.1:c.5552G>T	NP_001341164.1:p.Arg1851Leu
NM_001354236.1:c.5360G>T	NP_001341165.1:p.Arg1787Leu
NM_001354237.1:c.5540G>T	NP_001341166.1:p.Arg1847Leu
NM_001354239.1:c.5525G>T	NP_001341168.1:p.Arg1842Leu
NM_001354240.1:c.5507G>T	NP_001341169.1:p.Arg1836Leu
NM_001354241.1:c.5507G>T	NP_001341170.1:p.Arg1836Leu
NM_001354242.1:c.5504G>T	NP_001341171.1:p.Arg1835Leu
NM_001354243.1:c.5492G>T	NP_001341172.1:p.Arg1831Leu
NM_001354244.1:c.5489G>T	NP_001341173.1:p.Arg1830Leu
NM_001354245.1:c.5300G>T	NP_001341174.1:p.Arg1767Leu
NM_001354246.1:c.5459G>T	NP_001341175.1:p.Arg1820Leu
NM_001354249.1:c.5276G>T	NP_001341178.1:p.Arg1759Leu
NM_001354252.1:c.5432G>T	NP_001341181.1:p.Arg1811Leu
NM_001354253.1:c.5237G>T	NP_001341182.1:p.Arg1746Leu
NM_001354254.1:c.5411G>T	NP_001341183.1:p.Arg1804Leu
NM_001354255.1:c.5399G>T	NP_001341184.1:p.Arg1800Leu
NM_001354256.1:c.5396G>T	NP_001341185.1:p.Arg1799Leu
NM_001354257.1:c.5201G>T	NP_001341186.1:p.Arg1734Leu
NM_001354258.1:c.5363G>T	NP_001341187.1:p.Arg1788Leu
NM_001354260.1:c.5177G>T	NP_001341189.1:p.Arg1726Leu
NM_001354261.1:c.5321G>T	NP_001341190.1:p.Arg1774Leu
NM_001354262.1:c.5300G>T	NP_001341191.1:p.Arg1767Leu
NM_001354264.1:c.5297G>T	NP_001341193.1:p.Arg1766Leu
NM_001354265.1:c.5436+134G>T	NP_001341194.1:n.5436+134G>T
NM_001354266.1:c.5276G>T	NP_001341195.1:p.Arg1759Leu
NM_001354267.1:c.5276G>T	NP_001341196.1:p.Arg1759Leu
NM_001354268.1:c.5264G>T	NP_001341197.1:p.Arg1755Leu
NM_001354269.1:c.5249G>T	NP_001341198.1:p.Arg1750Leu
NM_001354270.1:c.5237G>T	NP_001341199.1:p.Arg1746Leu
NM_001354271.1:c.5177G>T	NP_001341200.1:p.Arg1726Leu
NM_001354272.1:c.5310+134G>T	NP_001341201.1:n.5310+134G>T
NM_001354273.1:c.5162G>T	NP_001341202.1:p.Arg1721Leu
NM_001354274.1:c.5298+134G>T	NP_001341203.1:n.5298+134G>T
NM_001354275.1:c.5277+134G>T	NP_001341204.1:n.5277+134G>T
NM_001354276.1:c.5253+134G>T	NP_001341205.1:n.5253+134G>T
NM_001354277.1:c.5055+134G>T	NP_001341206.1:n.5055+134G>T
NM_001354278.1:c.2990G>T	NP_001341207.1:p.Arg997Leu
NM_001354279.1:c.3026G>T	NP_001341208.1:p.Arg1009Leu
NM_001354280.1:c.3011G>T	NP_001341209.1:p.Arg1004Leu
NM_001354281.1:c.2990G>T	NP_001341210.1:p.Arg997Leu
NM_001354282.1:c.3003+134G>T	NP_001341211.1:n.3003+134G>T
NM_020977.4:c.5462G>T	NP_066187.2:p.Arg1821Leu
XM_005262945.3:c.11618G>T	XP_005263002.1:p.Arg3873Leu
XM_017008067.1:c.11951G>T	XP_016863556.1:p.Arg3984Leu
XM_017008069.1:c.11927G>T	XP_016863558.1:p.Arg3976Leu
XM_017008071.2:c.11837G>T	XP_016863560.1:p.Arg3946Leu
XM_017008072.2:c.11813G>T	XP_016863561.1:p.Arg3938Leu
XM_017008073.2:c.11810G>T	XP_016863562.1:p.Arg3937Leu
XM_017008074.2:c.11783G>T	XP_016863563.1:p.Arg3928Leu
XM_017008075.2:c.11747G>T	XP_016863564.1:p.Arg3916Leu
XM_017008076.2:c.11717G>T	XP_016863565.1:p.Arg3906Leu
XM_017008077.2:c.11624G>T	XP_016863566.1:p.Arg3875Leu
XM_017008078.2:c.5462G>T	XP_016863567.1:p.Arg1821Leu
XM_017008080.2:c.5312G>T	XP_016863569.1:p.Arg1771Leu
XM_024454016.1:c.11846G>T	XP_024309784.1:p.Arg3949Leu
XM_024454017.1:c.5591G>T	XP_024309785.1:p.Arg1864Leu
XM_024454018.1:c.5456G>T	XP_024309786.1:p.Arg1819Leu
XM_024454019.1:c.5441G>T	XP_024309787.1:p.Arg1814Leu
XM_024454020.1:c.5363G>T	XP_024309788.1:p.Arg1788Leu
XM_024454021.1:c.5360G>T	XP_024309789.1:p.Arg1787Leu
XM_024454022.1:c.5300G>T	XP_024309790.1:p.Arg1767Leu
XM_024454023.1:c.5162G>T	XP_024309791.1:p.Arg1721Leu
NM_001148.6:c.11717G>T MANE Select	NP_001139.3:p.Arg3906Leu
NM_001127493.3:c.5435G>T	NP_001120965.1:p.Arg1812Leu
NM_001354225.2:c.5474G>T	NP_001341154.1:p.Arg1825Leu
NM_001354228.2:c.5456G>T	NP_001341157.1:p.Arg1819Leu
NM_001354230.2:c.5441G>T	NP_001341159.1:p.Arg1814Leu
NM_001354231.2:c.5597G>T	NP_001341160.1:p.Arg1866Leu
NM_001354232.2:c.5591G>T	NP_001341161.1:p.Arg1864Leu
NM_001354235.2:c.5552G>T	NP_001341164.1:p.Arg1851Leu
NM_001354236.2:c.5360G>T	NP_001341165.1:p.Arg1787Leu
NM_001354237.2:c.5540G>T	NP_001341166.1:p.Arg1847Leu
NM_001354239.2:c.5525G>T	NP_001341168.1:p.Arg1842Leu
NM_001354240.2:c.5507G>T	NP_001341169.1:p.Arg1836Leu
NM_001354241.2:c.5507G>T	NP_001341170.1:p.Arg1836Leu
NM_001354242.2:c.5504G>T	NP_001341171.1:p.Arg1835Leu
NM_001354243.2:c.5492G>T	NP_001341172.1:p.Arg1831Leu
NM_001354244.2:c.5489G>T	NP_001341173.1:p.Arg1830Leu
NM_001354245.2:c.5300G>T	NP_001341174.1:p.Arg1767Leu
NM_001354246.2:c.5459G>T	NP_001341175.1:p.Arg1820Leu
NM_001354249.2:c.5276G>T	NP_001341178.1:p.Arg1759Leu
NM_001354252.2:c.5432G>T	NP_001341181.1:p.Arg1811Leu
NM_001354253.2:c.5237G>T	NP_001341182.1:p.Arg1746Leu
NM_001354254.2:c.5411G>T	NP_001341183.1:p.Arg1804Leu
NM_001354255.2:c.5399G>T	NP_001341184.1:p.Arg1800Leu
NM_001354256.2:c.5396G>T	NP_001341185.1:p.Arg1799Leu
NM_001354257.2:c.5201G>T	NP_001341186.1:p.Arg1734Leu
NM_001354258.2:c.5363G>T	NP_001341187.1:p.Arg1788Leu
NM_001354260.2:c.5177G>T	NP_001341189.1:p.Arg1726Leu
NM_001354261.2:c.5321G>T	NP_001341190.1:p.Arg1774Leu
NM_001354262.2:c.5300G>T	NP_001341191.1:p.Arg1767Leu
NM_001354264.2:c.5297G>T	NP_001341193.1:p.Arg1766Leu
NM_001354265.2:c.5436+134G>T	NP_001341194.1:n.5436+134G>T
NM_001354266.2:c.5276G>T	NP_001341195.1:p.Arg1759Leu
NM_001354267.2:c.5276G>T	NP_001341196.1:p.Arg1759Leu
NM_001354268.2:c.5264G>T	NP_001341197.1:p.Arg1755Leu
NM_001354269.3:c.5249G>T	NP_001341198.1:p.Arg1750Leu
NM_001354270.2:c.5237G>T	NP_001341199.1:p.Arg1746Leu
NM_001354271.2:c.5177G>T	NP_001341200.1:p.Arg1726Leu
NM_001354272.2:c.5310+134G>T	NP_001341201.1:n.5310+134G>T
NM_001354273.2:c.5162G>T	NP_001341202.1:p.Arg1721Leu
NM_001354274.2:c.5298+134G>T	NP_001341203.1:n.5298+134G>T
NM_001354275.2:c.5277+134G>T	NP_001341204.1:n.5277+134G>T
NM_001354276.2:c.5253+134G>T	NP_001341205.1:n.5253+134G>T
NM_001354277.2:c.5055+134G>T	NP_001341206.1:n.5055+134G>T
NM_001354278.2:c.2990G>T	NP_001341207.1:p.Arg997Leu
NM_001354279.2:c.3026G>T	NP_001341208.1:p.Arg1009Leu
NM_001354280.2:c.3011G>T	NP_001341209.1:p.Arg1004Leu
NM_001354281.2:c.2990G>T	NP_001341210.1:p.Arg997Leu
NM_001354282.2:c.3003+134G>T	NP_001341211.1:n.3003+134G>T
NM_001386142.1:c.11483G>T	NP_001373071.1:p.Arg3828Leu
NM_001386143.1:c.5492G>T	NP_001373072.1:p.Arg1831Leu
NM_001386144.1:c.5600G>T	NP_001373073.1:p.Arg1867Leu
NM_001386146.1:c.5336G>T	NP_001373075.1:p.Arg1779Leu
NM_001386147.1:c.5288G>T	NP_001373076.1:p.Arg1763Leu
NM_001386148.2:c.5447G>T	NP_001373077.1:p.Arg1816Leu
NM_001386149.1:c.5243G>T	NP_001373078.1:p.Arg1748Leu
NM_001386150.1:c.5336G>T	NP_001373079.1:p.Arg1779Leu
NM_001386151.1:c.5270G>T	NP_001373080.1:p.Arg1757Leu
NM_001386152.1:c.5412+3502G>T	NP_001373081.1:n.5412+3502G>T
NM_001386153.1:c.5243G>T	NP_001373082.1:p.Arg1748Leu
NM_001386154.1:c.5228G>T	NP_001373083.1:p.Arg1743Leu
NM_001386156.1:c.5201G>T	NP_001373085.1:p.Arg1734Leu
NM_001386157.1:c.5078G>T	NP_001373086.1:p.Arg1693Leu
NM_001386158.1:c.4979G>T	NP_001373087.1:p.Arg1660Leu
NM_001386160.1:c.5306G>T	NP_001373089.1:p.Arg1769Leu
NM_001386161.1:c.5396G>T	NP_001373090.1:p.Arg1799Leu
NM_001386162.1:c.5253+134G>T	NP_001373091.1:n.5253+134G>T
NM_001386166.1:c.8117G>T	NP_001373095.1:p.Arg2706Leu
NM_001386167.1:c.1955G>T	NP_001373096.1:p.Arg652Leu
NM_001386174.1:c.11951G>T	NP_001373103.1:p.Arg3984Leu
NM_001386175.1:c.11927G>T	NP_001373104.1:p.Arg3976Leu
NM_001386186.2:c.5447G>T	NP_001373115.1:p.Arg1816Leu
NM_001386187.2:c.5327G>T	NP_001373116.1:p.Arg1776Leu
NM_020977.5:c.5462G>T	NP_066187.2:p.Arg1821Leu