Canonical Allele Identifier: CA357943563

Gene: ANK2

Linked Data

• ClinVar Variation Id: 1739811
• ClinVar RCV Id: RCV002332148
• dbSNP Id: rs1554597581
• gnomAD v4: 4-113373310-A-C
• MyVariant Identifiers: chr4:g.114294466A>C (hg19) ; chr4:g.113373310A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.113373310A>C , CM000666.2:g.113373310A>C	GRCh38
NC_000004.11:g.114294466A>C , CM000666.1:g.114294466A>C	GRCh37
NC_000004.10:g.114513915A>C	NCBI36
NG_009006.2:g.560228A>C , LRG_327:g.560228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506344.6:c.11954A>C	ENSP00000422888.2:p.Tyr3985Ser
ENST00000705785.1:c.5546A>C	ENSP00000516169.1:p.Tyr1849Ser
ENST00000510275.8:c.2037+3505A>C	ENSP00000421023.4:n.2037+3505A>C
ENST00000612754.2:c.2645A>C	ENSP00000482888.2:p.Tyr882Ser
ENST00000681990.1:n.3102A>C
ENST00000682049.1:n.2310A>C
ENST00000682959.1:n.6338A>C
ENST00000683389.1:n.1883A>C
ENST00000683777.1:n.2523A>C
ENST00000683826.1:n.3735+3505A>C
ENST00000683893.1:n.1826A>C
ENST00000683908.1:n.2219A>C
ENST00000683972.1:n.8565A>C
ENST00000684225.1:n.3191A>C
ENST00000684230.1:n.3472+137A>C
ENST00000684378.1:n.4459A>C
ENST00000684470.1:n.3702A>C
ENST00000684730.1:n.5108A>C
ENST00000357077.9:c.11720A>C MANE Select	ENSP00000349588.4:p.Tyr3907Ser
ENST00000503423.6:c.11558A>C	ENSP00000421011.2:p.Tyr3853Ser
ENST00000505342.6:c.2852A>C	ENSP00000422498.2:p.Tyr951Ser
ENST00000510275.7:c.1268A>C	ENSP00000421023.3:p.Tyr423Ser
ENST00000671704.1:c.5279A>C	ENSP00000500926.1:p.Tyr1760Ser
ENST00000671727.1:c.5459A>C	ENSP00000500102.1:p.Tyr1820Ser
ENST00000671756.1:c.5277+137A>C	ENSP00000500712.1:n.5277+137A>C
ENST00000671762.1:c.5594A>C	ENSP00000500954.1:p.Tyr1865Ser
ENST00000671793.1:c.5495A>C	ENSP00000499928.1:p.Tyr1832Ser
ENST00000671809.1:c.11594A>C	ENSP00000500872.1:p.Tyr3865Ser
ENST00000671825.1:c.5402A>C	ENSP00000500459.1:p.Tyr1801Ser
ENST00000671854.1:c.5204A>C	ENSP00000500833.1:p.Tyr1735Ser
ENST00000671863.1:c.*958A>C	ENSP00000500855.1:n.*958A>C
ENST00000671882.1:c.11428-1454A>C	ENSP00000499887.1:n.11428-1454A>C
ENST00000671893.1:c.5055+137A>C	ENSP00000499986.1:n.5055+137A>C
ENST00000671906.1:c.11534A>C	ENSP00000499953.1:p.Tyr3845Ser
ENST00000671951.1:c.5180A>C	ENSP00000500528.1:p.Tyr1727Ser
ENST00000671971.1:c.11765A>C	ENSP00000499832.1:p.Tyr3922Ser
ENST00000672045.1:c.5303A>C	ENSP00000499959.1:p.Tyr1768Ser
ENST00000672068.1:c.11651A>C	ENSP00000499902.1:p.Tyr3884Ser
ENST00000672088.1:c.5279A>C	ENSP00000499837.1:p.Tyr1760Ser
ENST00000672090.1:c.11558A>C	ENSP00000500540.1:p.Tyr3853Ser
ENST00000672177.1:c.5315A>C	ENSP00000500918.1:p.Tyr1772Ser
ENST00000672209.1:c.11651A>C	ENSP00000499982.1:p.Tyr3884Ser
ENST00000672221.1:c.5300A>C	ENSP00000500473.1:p.Tyr1767Ser
ENST00000672240.1:c.11801A>C	ENSP00000500548.1:p.Tyr3934Ser
ENST00000672246.1:c.5262+137A>C	ENSP00000499990.1:n.5262+137A>C
ENST00000672251.1:c.11522A>C	ENSP00000500580.1:p.Tyr3841Ser
ENST00000672312.1:c.5303A>C	ENSP00000500378.1:p.Tyr1768Ser
ENST00000672315.1:c.5292+3505A>C	ENSP00000500780.1:n.5292+3505A>C
ENST00000672350.1:c.5240A>C	ENSP00000500420.1:p.Tyr1747Ser
ENST00000672356.1:c.5180A>C	ENSP00000500544.1:p.Tyr1727Ser
ENST00000672362.1:c.5531A>C	ENSP00000500522.1:p.Tyr1844Ser
ENST00000672366.1:c.5366A>C	ENSP00000500937.1:p.Tyr1789Ser
ENST00000672402.1:c.5495A>C	ENSP00000500881.1:p.Tyr1832Ser
ENST00000672411.1:c.3003+137A>C	ENSP00000499979.1:n.3003+137A>C
ENST00000672502.1:c.11621A>C	ENSP00000499870.1:p.Tyr3874Ser
ENST00000672684.1:c.5204A>C	ENSP00000499943.1:p.Tyr1735Ser
ENST00000672696.1:c.5469+137A>C	ENSP00000499828.1:n.5469+137A>C
ENST00000672731.1:c.5253+137A>C	ENSP00000500908.1:n.5253+137A>C
ENST00000672759.1:c.5180A>C	ENSP00000499881.1:p.Tyr1727Ser
ENST00000672779.1:c.5510A>C	ENSP00000499869.1:p.Tyr1837Ser
ENST00000672793.1:c.5396A>C	ENSP00000500150.1:p.Tyr1799Ser
ENST00000672830.1:c.11657A>C	ENSP00000500222.1:p.Tyr3886Ser
ENST00000672854.1:c.5267A>C	ENSP00000500311.1:p.Tyr1756Ser
ENST00000672880.1:c.5303A>C	ENSP00000500866.1:p.Tyr1768Ser
ENST00000672915.1:c.2852A>C	ENSP00000500622.1:p.Tyr951Ser
ENST00000672930.1:c.11532+137A>C	ENSP00000499913.1:n.11532+137A>C
ENST00000672934.1:c.11459A>C	ENSP00000500645.1:p.Tyr3820Ser
ENST00000672955.1:c.5279A>C	ENSP00000500527.1:p.Tyr1760Ser
ENST00000672965.1:c.5339A>C	ENSP00000499891.1:p.Tyr1780Ser
ENST00000672986.1:c.4883A>C	ENSP00000499967.1:p.Tyr1628Ser
ENST00000672990.1:c.5339A>C	ENSP00000500275.1:p.Tyr1780Ser
ENST00000673044.1:c.5292+3505A>C	ENSP00000500933.1:n.5292+3505A>C
ENST00000673048.1:c.3014A>C	ENSP00000500832.1:p.Tyr1005Ser
ENST00000673109.1:c.11435A>C	ENSP00000500265.1:p.Tyr3812Ser
ENST00000673231.1:c.3029A>C	ENSP00000500111.1:p.Tyr1010Ser
ENST00000673240.1:c.5510A>C	ENSP00000499996.1:p.Tyr1837Ser
ENST00000673255.1:c.5303A>C	ENSP00000500423.1:p.Tyr1768Ser
ENST00000673298.1:c.11558A>C	ENSP00000500245.1:p.Tyr3853Ser
ENST00000673334.1:c.11448+3505A>C	ENSP00000500854.1:n.11448+3505A>C
ENST00000673353.1:c.2993A>C	ENSP00000500007.1:p.Tyr998Ser
ENST00000673363.1:c.11666A>C	ENSP00000500539.1:p.Tyr3889Ser
ENST00000673430.1:c.5396A>C	ENSP00000500269.1:p.Tyr1799Ser
ENST00000673453.1:c.5298+137A>C	ENSP00000500112.1:n.5298+137A>C
ENST00000673536.1:c.4973A>C	ENSP00000500524.1:p.Tyr1658Ser
ENST00000673538.1:c.*958A>C	ENSP00000500842.1:n.*958A>C
ENST00000673546.1:c.5240A>C	ENSP00000500843.1:p.Tyr1747Ser
ENST00000673555.1:c.11625+137A>C	ENSP00000500947.1:n.11625+137A>C
ENST00000673573.1:c.11495A>C	ENSP00000500883.1:p.Tyr3832Ser
ENST00000264366.10:c.11621A>C	ENSP00000264366.6:p.Tyr3874Ser
ENST00000357077.8:c.11720A>C	ENSP00000349588.4:p.Tyr3907Ser
ENST00000394537.7:c.5465A>C	ENSP00000378044.3:p.Tyr1822Ser
ENST00000505342.5:c.2750A>C	ENSP00000422498.1:p.Tyr917Ser
ENST00000506722.5:c.5438A>C	ENSP00000421067.1:p.Tyr1813Ser
ENST00000509550.5:c.2993A>C	ENSP00000426944.1:p.Tyr998Ser
ENST00000510275.6:c.1514A>C	ENSP00000421023.2:p.Tyr505Ser
ENST00000514960.5:c.2562A>C
ENST00000612754.1:c.*3081A>C	ENSP00000482888.1:n.*3081A>C
NM_001127493.1:c.5438A>C , LRG_327t2:c.5438A>C	NP_001120965.1:p.Tyr1813Ser
NM_001148.4:c.11720A>C , LRG_327t1:c.11720A>C	NP_001139.3:p.Tyr3907Ser
NM_020977.3:c.5465A>C	NP_066187.2:p.Tyr1822Ser
XM_005262942.3:c.11846A>C	XP_005262999.1:p.Tyr3949Ser
XM_005262945.1:c.11621A>C	XP_005263002.1:p.Tyr3874Ser
XM_005262948.3:c.5462A>C	XP_005263005.1:p.Tyr1821Ser
XM_006714188.2:c.11900A>C	XP_006714251.1:p.Tyr3967Ser
XM_006714189.2:c.11864A>C	XP_006714252.1:p.Tyr3955Ser
XM_006714190.2:c.5612A>C	XP_006714253.1:p.Tyr1871Ser
XM_006714191.2:c.5552A>C	XP_006714254.1:p.Tyr1851Ser
XM_006714192.2:c.5576A>C	XP_006714255.1:p.Tyr1859Ser
XM_006714193.2:c.5552A>C	XP_006714256.1:p.Tyr1851Ser
XM_006714194.2:c.11840A>C	XP_006714257.1:p.Tyr3947Ser
XM_011531891.1:c.11885A>C	XP_011530193.1:p.Tyr3962Ser
NM_001127493.2:c.5438A>C	NP_001120965.1:p.Tyr1813Ser
NM_001148.5:c.11720A>C	NP_001139.3:p.Tyr3907Ser
NM_001354225.1:c.5477A>C	NP_001341154.1:p.Tyr1826Ser
NM_001354228.1:c.5459A>C	NP_001341157.1:p.Tyr1820Ser
NM_001354230.1:c.5444A>C	NP_001341159.1:p.Tyr1815Ser
NM_001354231.1:c.5600A>C	NP_001341160.1:p.Tyr1867Ser
NM_001354232.1:c.5594A>C	NP_001341161.1:p.Tyr1865Ser
NM_001354235.1:c.5555A>C	NP_001341164.1:p.Tyr1852Ser
NM_001354236.1:c.5363A>C	NP_001341165.1:p.Tyr1788Ser
NM_001354237.1:c.5543A>C	NP_001341166.1:p.Tyr1848Ser
NM_001354239.1:c.5528A>C	NP_001341168.1:p.Tyr1843Ser
NM_001354240.1:c.5510A>C	NP_001341169.1:p.Tyr1837Ser
NM_001354241.1:c.5510A>C	NP_001341170.1:p.Tyr1837Ser
NM_001354242.1:c.5507A>C	NP_001341171.1:p.Tyr1836Ser
NM_001354243.1:c.5495A>C	NP_001341172.1:p.Tyr1832Ser
NM_001354244.1:c.5492A>C	NP_001341173.1:p.Tyr1831Ser
NM_001354245.1:c.5303A>C	NP_001341174.1:p.Tyr1768Ser
NM_001354246.1:c.5462A>C	NP_001341175.1:p.Tyr1821Ser
NM_001354249.1:c.5279A>C	NP_001341178.1:p.Tyr1760Ser
NM_001354252.1:c.5435A>C	NP_001341181.1:p.Tyr1812Ser
NM_001354253.1:c.5240A>C	NP_001341182.1:p.Tyr1747Ser
NM_001354254.1:c.5414A>C	NP_001341183.1:p.Tyr1805Ser
NM_001354255.1:c.5402A>C	NP_001341184.1:p.Tyr1801Ser
NM_001354256.1:c.5399A>C	NP_001341185.1:p.Tyr1800Ser
NM_001354257.1:c.5204A>C	NP_001341186.1:p.Tyr1735Ser
NM_001354258.1:c.5366A>C	NP_001341187.1:p.Tyr1789Ser
NM_001354260.1:c.5180A>C	NP_001341189.1:p.Tyr1727Ser
NM_001354261.1:c.5324A>C	NP_001341190.1:p.Tyr1775Ser
NM_001354262.1:c.5303A>C	NP_001341191.1:p.Tyr1768Ser
NM_001354264.1:c.5300A>C	NP_001341193.1:p.Tyr1767Ser
NM_001354265.1:c.5436+137A>C	NP_001341194.1:n.5436+137A>C
NM_001354266.1:c.5279A>C	NP_001341195.1:p.Tyr1760Ser
NM_001354267.1:c.5279A>C	NP_001341196.1:p.Tyr1760Ser
NM_001354268.1:c.5267A>C	NP_001341197.1:p.Tyr1756Ser
NM_001354269.1:c.5252A>C	NP_001341198.1:p.Tyr1751Ser
NM_001354270.1:c.5240A>C	NP_001341199.1:p.Tyr1747Ser
NM_001354271.1:c.5180A>C	NP_001341200.1:p.Tyr1727Ser
NM_001354272.1:c.5310+137A>C	NP_001341201.1:n.5310+137A>C
NM_001354273.1:c.5165A>C	NP_001341202.1:p.Tyr1722Ser
NM_001354274.1:c.5298+137A>C	NP_001341203.1:n.5298+137A>C
NM_001354275.1:c.5277+137A>C	NP_001341204.1:n.5277+137A>C
NM_001354276.1:c.5253+137A>C	NP_001341205.1:n.5253+137A>C
NM_001354277.1:c.5055+137A>C	NP_001341206.1:n.5055+137A>C
NM_001354278.1:c.2993A>C	NP_001341207.1:p.Tyr998Ser
NM_001354279.1:c.3029A>C	NP_001341208.1:p.Tyr1010Ser
NM_001354280.1:c.3014A>C	NP_001341209.1:p.Tyr1005Ser
NM_001354281.1:c.2993A>C	NP_001341210.1:p.Tyr998Ser
NM_001354282.1:c.3003+137A>C	NP_001341211.1:n.3003+137A>C
NM_020977.4:c.5465A>C	NP_066187.2:p.Tyr1822Ser
XM_005262945.3:c.11621A>C	XP_005263002.1:p.Tyr3874Ser
XM_017008067.1:c.11954A>C	XP_016863556.1:p.Tyr3985Ser
XM_017008069.1:c.11930A>C	XP_016863558.1:p.Tyr3977Ser
XM_017008071.2:c.11840A>C	XP_016863560.1:p.Tyr3947Ser
XM_017008072.2:c.11816A>C	XP_016863561.1:p.Tyr3939Ser
XM_017008073.2:c.11813A>C	XP_016863562.1:p.Tyr3938Ser
XM_017008074.2:c.11786A>C	XP_016863563.1:p.Tyr3929Ser
XM_017008075.2:c.11750A>C	XP_016863564.1:p.Tyr3917Ser
XM_017008076.2:c.11720A>C	XP_016863565.1:p.Tyr3907Ser
XM_017008077.2:c.11627A>C	XP_016863566.1:p.Tyr3876Ser
XM_017008078.2:c.5465A>C	XP_016863567.1:p.Tyr1822Ser
XM_017008080.2:c.5315A>C	XP_016863569.1:p.Tyr1772Ser
XM_024454016.1:c.11849A>C	XP_024309784.1:p.Tyr3950Ser
XM_024454017.1:c.5594A>C	XP_024309785.1:p.Tyr1865Ser
XM_024454018.1:c.5459A>C	XP_024309786.1:p.Tyr1820Ser
XM_024454019.1:c.5444A>C	XP_024309787.1:p.Tyr1815Ser
XM_024454020.1:c.5366A>C	XP_024309788.1:p.Tyr1789Ser
XM_024454021.1:c.5363A>C	XP_024309789.1:p.Tyr1788Ser
XM_024454022.1:c.5303A>C	XP_024309790.1:p.Tyr1768Ser
XM_024454023.1:c.5165A>C	XP_024309791.1:p.Tyr1722Ser
NM_001148.6:c.11720A>C MANE Select	NP_001139.3:p.Tyr3907Ser
NM_001127493.3:c.5438A>C	NP_001120965.1:p.Tyr1813Ser
NM_001354225.2:c.5477A>C	NP_001341154.1:p.Tyr1826Ser
NM_001354228.2:c.5459A>C	NP_001341157.1:p.Tyr1820Ser
NM_001354230.2:c.5444A>C	NP_001341159.1:p.Tyr1815Ser
NM_001354231.2:c.5600A>C	NP_001341160.1:p.Tyr1867Ser
NM_001354232.2:c.5594A>C	NP_001341161.1:p.Tyr1865Ser
NM_001354235.2:c.5555A>C	NP_001341164.1:p.Tyr1852Ser
NM_001354236.2:c.5363A>C	NP_001341165.1:p.Tyr1788Ser
NM_001354237.2:c.5543A>C	NP_001341166.1:p.Tyr1848Ser
NM_001354239.2:c.5528A>C	NP_001341168.1:p.Tyr1843Ser
NM_001354240.2:c.5510A>C	NP_001341169.1:p.Tyr1837Ser
NM_001354241.2:c.5510A>C	NP_001341170.1:p.Tyr1837Ser
NM_001354242.2:c.5507A>C	NP_001341171.1:p.Tyr1836Ser
NM_001354243.2:c.5495A>C	NP_001341172.1:p.Tyr1832Ser
NM_001354244.2:c.5492A>C	NP_001341173.1:p.Tyr1831Ser
NM_001354245.2:c.5303A>C	NP_001341174.1:p.Tyr1768Ser
NM_001354246.2:c.5462A>C	NP_001341175.1:p.Tyr1821Ser
NM_001354249.2:c.5279A>C	NP_001341178.1:p.Tyr1760Ser
NM_001354252.2:c.5435A>C	NP_001341181.1:p.Tyr1812Ser
NM_001354253.2:c.5240A>C	NP_001341182.1:p.Tyr1747Ser
NM_001354254.2:c.5414A>C	NP_001341183.1:p.Tyr1805Ser
NM_001354255.2:c.5402A>C	NP_001341184.1:p.Tyr1801Ser
NM_001354256.2:c.5399A>C	NP_001341185.1:p.Tyr1800Ser
NM_001354257.2:c.5204A>C	NP_001341186.1:p.Tyr1735Ser
NM_001354258.2:c.5366A>C	NP_001341187.1:p.Tyr1789Ser
NM_001354260.2:c.5180A>C	NP_001341189.1:p.Tyr1727Ser
NM_001354261.2:c.5324A>C	NP_001341190.1:p.Tyr1775Ser
NM_001354262.2:c.5303A>C	NP_001341191.1:p.Tyr1768Ser
NM_001354264.2:c.5300A>C	NP_001341193.1:p.Tyr1767Ser
NM_001354265.2:c.5436+137A>C	NP_001341194.1:n.5436+137A>C
NM_001354266.2:c.5279A>C	NP_001341195.1:p.Tyr1760Ser
NM_001354267.2:c.5279A>C	NP_001341196.1:p.Tyr1760Ser
NM_001354268.2:c.5267A>C	NP_001341197.1:p.Tyr1756Ser
NM_001354269.3:c.5252A>C	NP_001341198.1:p.Tyr1751Ser
NM_001354270.2:c.5240A>C	NP_001341199.1:p.Tyr1747Ser
NM_001354271.2:c.5180A>C	NP_001341200.1:p.Tyr1727Ser
NM_001354272.2:c.5310+137A>C	NP_001341201.1:n.5310+137A>C
NM_001354273.2:c.5165A>C	NP_001341202.1:p.Tyr1722Ser
NM_001354274.2:c.5298+137A>C	NP_001341203.1:n.5298+137A>C
NM_001354275.2:c.5277+137A>C	NP_001341204.1:n.5277+137A>C
NM_001354276.2:c.5253+137A>C	NP_001341205.1:n.5253+137A>C
NM_001354277.2:c.5055+137A>C	NP_001341206.1:n.5055+137A>C
NM_001354278.2:c.2993A>C	NP_001341207.1:p.Tyr998Ser
NM_001354279.2:c.3029A>C	NP_001341208.1:p.Tyr1010Ser
NM_001354280.2:c.3014A>C	NP_001341209.1:p.Tyr1005Ser
NM_001354281.2:c.2993A>C	NP_001341210.1:p.Tyr998Ser
NM_001354282.2:c.3003+137A>C	NP_001341211.1:n.3003+137A>C
NM_001386142.1:c.11486A>C	NP_001373071.1:p.Tyr3829Ser
NM_001386143.1:c.5495A>C	NP_001373072.1:p.Tyr1832Ser
NM_001386144.1:c.5603A>C	NP_001373073.1:p.Tyr1868Ser
NM_001386146.1:c.5339A>C	NP_001373075.1:p.Tyr1780Ser
NM_001386147.1:c.5291A>C	NP_001373076.1:p.Tyr1764Ser
NM_001386148.2:c.5450A>C	NP_001373077.1:p.Tyr1817Ser
NM_001386149.1:c.5246A>C	NP_001373078.1:p.Tyr1749Ser
NM_001386150.1:c.5339A>C	NP_001373079.1:p.Tyr1780Ser
NM_001386151.1:c.5273A>C	NP_001373080.1:p.Tyr1758Ser
NM_001386152.1:c.5412+3505A>C	NP_001373081.1:n.5412+3505A>C
NM_001386153.1:c.5246A>C	NP_001373082.1:p.Tyr1749Ser
NM_001386154.1:c.5231A>C	NP_001373083.1:p.Tyr1744Ser
NM_001386156.1:c.5204A>C	NP_001373085.1:p.Tyr1735Ser
NM_001386157.1:c.5081A>C	NP_001373086.1:p.Tyr1694Ser
NM_001386158.1:c.4982A>C	NP_001373087.1:p.Tyr1661Ser
NM_001386160.1:c.5309A>C	NP_001373089.1:p.Tyr1770Ser
NM_001386161.1:c.5399A>C	NP_001373090.1:p.Tyr1800Ser
NM_001386162.1:c.5253+137A>C	NP_001373091.1:n.5253+137A>C
NM_001386166.1:c.8120A>C	NP_001373095.1:p.Tyr2707Ser
NM_001386167.1:c.1958A>C	NP_001373096.1:p.Tyr653Ser
NM_001386174.1:c.11954A>C	NP_001373103.1:p.Tyr3985Ser
NM_001386175.1:c.11930A>C	NP_001373104.1:p.Tyr3977Ser
NM_001386186.2:c.5450A>C	NP_001373115.1:p.Tyr1817Ser
NM_001386187.2:c.5330A>C	NP_001373116.1:p.Tyr1777Ser
NM_020977.5:c.5465A>C	NP_066187.2:p.Tyr1822Ser