Canonical Allele Identifier: CA357942917

Gene: ANK2

Linked Data

• dbSNP Id: rs199473643
• MyVariant Identifiers: chr4:g.114290882C>T (hg19) ; chr4:g.113369726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.113369726C>T , CM000666.2:g.113369726C>T	GRCh38
NC_000004.11:g.114290882C>T , CM000666.1:g.114290882C>T	GRCh37
NC_000004.10:g.114510331C>T	NCBI36
NG_009006.2:g.556644C>T , LRG_327:g.556644C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000506344.6:c.11672C>T	ENSP00000422888.2:p.Thr3891Ile
ENST00000705785.1:c.5357C>T	ENSP00000516169.1:p.Thr1786Ile
ENST00000510275.8:c.1958C>T	ENSP00000421023.4:p.Thr653Ile
ENST00000612754.2:c.2456C>T	ENSP00000482888.2:p.Thr819Ile
ENST00000681990.1:n.2913C>T
ENST00000682049.1:n.2121C>T
ENST00000682959.1:n.2865C>T
ENST00000683389.1:n.1694C>T
ENST00000683826.1:n.3656C>T
ENST00000683893.1:n.1637C>T
ENST00000683908.1:n.2030C>T
ENST00000683972.1:n.8376C>T
ENST00000684225.1:n.3002C>T
ENST00000684230.1:n.25C>T
ENST00000684378.1:n.986C>T
ENST00000684470.1:n.3420C>T
ENST00000684730.1:n.1635C>T
ENST00000357077.9:c.11531C>T MANE Select	ENSP00000349588.4:p.Thr3844Ile
ENST00000503423.6:c.11369C>T	ENSP00000421011.2:p.Thr3790Ile
ENST00000505342.6:c.2663C>T	ENSP00000422498.2:p.Thr888Ile
ENST00000510275.7:c.986C>T	ENSP00000421023.3:p.Thr329Ile
ENST00000671704.1:c.5090C>T	ENSP00000500926.1:p.Thr1697Ile
ENST00000671727.1:c.5177C>T	ENSP00000500102.1:p.Thr1726Ile
ENST00000671756.1:c.5114C>T	ENSP00000500712.1:p.Thr1705Ile
ENST00000671762.1:c.5312C>T	ENSP00000500954.1:p.Thr1771Ile
ENST00000671793.1:c.5213C>T	ENSP00000499928.1:p.Thr1738Ile
ENST00000671809.1:c.11405C>T	ENSP00000500872.1:p.Thr3802Ile
ENST00000671825.1:c.5213C>T	ENSP00000500459.1:p.Thr1738Ile
ENST00000671854.1:c.5015C>T	ENSP00000500833.1:p.Thr1672Ile
ENST00000671863.1:c.*769C>T	ENSP00000500855.1:n.*769C>T
ENST00000671882.1:c.11348C>T	ENSP00000499887.1:p.Thr3783Ile
ENST00000671893.1:c.4892C>T	ENSP00000499986.1:p.Thr1631Ile
ENST00000671906.1:c.11345C>T	ENSP00000499953.1:p.Thr3782Ile
ENST00000671951.1:c.4991C>T	ENSP00000500528.1:p.Thr1664Ile
ENST00000671971.1:c.11576C>T	ENSP00000499832.1:p.Thr3859Ile
ENST00000672045.1:c.5114C>T	ENSP00000499959.1:p.Thr1705Ile
ENST00000672068.1:c.11369C>T	ENSP00000499902.1:p.Thr3790Ile
ENST00000672088.1:c.5090C>T	ENSP00000499837.1:p.Thr1697Ile
ENST00000672090.1:c.11369C>T	ENSP00000500540.1:p.Thr3790Ile
ENST00000672177.1:c.5126C>T	ENSP00000500918.1:p.Thr1709Ile
ENST00000672209.1:c.11369C>T	ENSP00000499982.1:p.Thr3790Ile
ENST00000672221.1:c.5111C>T	ENSP00000500473.1:p.Thr1704Ile
ENST00000672240.1:c.11612C>T	ENSP00000500548.1:p.Thr3871Ile
ENST00000672246.1:c.5099C>T	ENSP00000499990.1:p.Thr1700Ile
ENST00000672251.1:c.11333C>T	ENSP00000500580.1:p.Thr3778Ile
ENST00000672312.1:c.5114C>T	ENSP00000500378.1:p.Thr1705Ile
ENST00000672315.1:c.5213C>T	ENSP00000500780.1:p.Thr1738Ile
ENST00000672350.1:c.5051C>T	ENSP00000500420.1:p.Thr1684Ile
ENST00000672356.1:c.4991C>T	ENSP00000500544.1:p.Thr1664Ile
ENST00000672362.1:c.5249C>T	ENSP00000500522.1:p.Thr1750Ile
ENST00000672366.1:c.5177C>T	ENSP00000500937.1:p.Thr1726Ile
ENST00000672402.1:c.5213C>T	ENSP00000500881.1:p.Thr1738Ile
ENST00000672411.1:c.2840C>T	ENSP00000499979.1:p.Thr947Ile
ENST00000672502.1:c.11432C>T	ENSP00000499870.1:p.Thr3811Ile
ENST00000672684.1:c.5015C>T	ENSP00000499943.1:p.Thr1672Ile
ENST00000672696.1:c.5213C>T	ENSP00000499828.1:p.Thr1738Ile
ENST00000672731.1:c.5090C>T	ENSP00000500908.1:p.Thr1697Ile
ENST00000672759.1:c.4991C>T	ENSP00000499881.1:p.Thr1664Ile
ENST00000672779.1:c.5321C>T	ENSP00000499869.1:p.Thr1774Ile
ENST00000672793.1:c.5114C>T	ENSP00000500150.1:p.Thr1705Ile
ENST00000672830.1:c.11468C>T	ENSP00000500222.1:p.Thr3823Ile
ENST00000672854.1:c.5078C>T	ENSP00000500311.1:p.Thr1693Ile
ENST00000672880.1:c.5114C>T	ENSP00000500866.1:p.Thr1705Ile
ENST00000672915.1:c.2663C>T	ENSP00000500622.1:p.Thr888Ile
ENST00000672930.1:c.11369C>T	ENSP00000499913.1:p.Thr3790Ile
ENST00000672934.1:c.11270C>T	ENSP00000500645.1:p.Thr3757Ile
ENST00000672955.1:c.5090C>T	ENSP00000500527.1:p.Thr1697Ile
ENST00000672965.1:c.5150C>T	ENSP00000499891.1:p.Thr1717Ile
ENST00000672986.1:c.4694C>T	ENSP00000499967.1:p.Thr1565Ile
ENST00000672990.1:c.5150C>T	ENSP00000500275.1:p.Thr1717Ile
ENST00000673044.1:c.5213C>T	ENSP00000500933.1:p.Thr1738Ile
ENST00000673048.1:c.2825C>T	ENSP00000500832.1:p.Thr942Ile
ENST00000673109.1:c.11246C>T	ENSP00000500265.1:p.Thr3749Ile
ENST00000673231.1:c.2840C>T	ENSP00000500111.1:p.Thr947Ile
ENST00000673240.1:c.5321C>T	ENSP00000499996.1:p.Thr1774Ile
ENST00000673255.1:c.5114C>T	ENSP00000500423.1:p.Thr1705Ile
ENST00000673298.1:c.11369C>T	ENSP00000500245.1:p.Thr3790Ile
ENST00000673334.1:c.11369C>T	ENSP00000500854.1:p.Thr3790Ile
ENST00000673353.1:c.2804C>T	ENSP00000500007.1:p.Thr935Ile
ENST00000673363.1:c.11477C>T	ENSP00000500539.1:p.Thr3826Ile
ENST00000673430.1:c.5114C>T	ENSP00000500269.1:p.Thr1705Ile
ENST00000673453.1:c.5042C>T	ENSP00000500112.1:p.Thr1681Ile
ENST00000673536.1:c.4784C>T	ENSP00000500524.1:p.Thr1595Ile
ENST00000673538.1:c.*769C>T	ENSP00000500842.1:n.*769C>T
ENST00000673546.1:c.5051C>T	ENSP00000500843.1:p.Thr1684Ile
ENST00000673555.1:c.11369C>T	ENSP00000500947.1:p.Thr3790Ile
ENST00000673573.1:c.11306C>T	ENSP00000500883.1:p.Thr3769Ile
ENST00000264366.10:c.11432C>T	ENSP00000264366.6:p.Thr3811Ile
ENST00000357077.8:c.11531C>T	ENSP00000349588.4:p.Thr3844Ile
ENST00000394537.7:c.5276C>T	ENSP00000378044.3:p.Thr1759Ile
ENST00000505342.5:c.2561C>T	ENSP00000422498.1:p.Thr854Ile
ENST00000506722.5:c.5249C>T	ENSP00000421067.1:p.Thr1750Ile
ENST00000509550.5:c.2804C>T	ENSP00000426944.1:p.Thr935Ile
ENST00000510275.6:c.1232C>T	ENSP00000421023.2:p.Thr411Ile
ENST00000514960.5:c.2280C>T
ENST00000612754.1:c.*2892C>T	ENSP00000482888.1:n.*2892C>T
NM_001127493.1:c.5249C>T , LRG_327t2:c.5249C>T	NP_001120965.1:p.Thr1750Ile
NM_001148.4:c.11531C>T , LRG_327t1:c.11531C>T	NP_001139.3:p.Thr3844Ile
NM_020977.3:c.5276C>T	NP_066187.2:p.Thr1759Ile
XM_005262942.3:c.11564C>T	XP_005262999.1:p.Thr3855Ile
XM_005262945.1:c.11432C>T	XP_005263002.1:p.Thr3811Ile
XM_005262948.3:c.5273C>T	XP_005263005.1:p.Thr1758Ile
XM_006714188.2:c.11618C>T	XP_006714251.1:p.Thr3873Ile
XM_006714189.2:c.11582C>T	XP_006714252.1:p.Thr3861Ile
XM_006714190.2:c.5330C>T	XP_006714253.1:p.Thr1777Ile
XM_006714191.2:c.5363C>T	XP_006714254.1:p.Thr1788Ile
XM_006714192.2:c.5294C>T	XP_006714255.1:p.Thr1765Ile
XM_006714193.2:c.5363C>T	XP_006714256.1:p.Thr1788Ile
XM_006714194.2:c.11558C>T	XP_006714257.1:p.Thr3853Ile
XM_011531891.1:c.11603C>T	XP_011530193.1:p.Thr3868Ile
NM_001127493.2:c.5249C>T	NP_001120965.1:p.Thr1750Ile
NM_001148.5:c.11531C>T	NP_001139.3:p.Thr3844Ile
NM_001354225.1:c.5288C>T	NP_001341154.1:p.Thr1763Ile
NM_001354228.1:c.5177C>T	NP_001341157.1:p.Thr1726Ile
NM_001354230.1:c.5255C>T	NP_001341159.1:p.Thr1752Ile
NM_001354231.1:c.5318C>T	NP_001341160.1:p.Thr1773Ile
NM_001354232.1:c.5312C>T	NP_001341161.1:p.Thr1771Ile
NM_001354235.1:c.5273C>T	NP_001341164.1:p.Thr1758Ile
NM_001354236.1:c.5174C>T	NP_001341165.1:p.Thr1725Ile
NM_001354237.1:c.5354C>T	NP_001341166.1:p.Thr1785Ile
NM_001354239.1:c.5246C>T	NP_001341168.1:p.Thr1749Ile
NM_001354240.1:c.5321C>T	NP_001341169.1:p.Thr1774Ile
NM_001354241.1:c.5321C>T	NP_001341170.1:p.Thr1774Ile
NM_001354242.1:c.5318C>T	NP_001341171.1:p.Thr1773Ile
NM_001354243.1:c.5213C>T	NP_001341172.1:p.Thr1738Ile
NM_001354244.1:c.5210C>T	NP_001341173.1:p.Thr1737Ile
NM_001354245.1:c.5114C>T	NP_001341174.1:p.Thr1705Ile
NM_001354246.1:c.5273C>T	NP_001341175.1:p.Thr1758Ile
NM_001354249.1:c.5090C>T	NP_001341178.1:p.Thr1697Ile
NM_001354252.1:c.5246C>T	NP_001341181.1:p.Thr1749Ile
NM_001354253.1:c.5051C>T	NP_001341182.1:p.Thr1684Ile
NM_001354254.1:c.5225C>T	NP_001341183.1:p.Thr1742Ile
NM_001354255.1:c.5213C>T	NP_001341184.1:p.Thr1738Ile
NM_001354256.1:c.5210C>T	NP_001341185.1:p.Thr1737Ile
NM_001354257.1:c.5015C>T	NP_001341186.1:p.Thr1672Ile
NM_001354258.1:c.5177C>T	NP_001341187.1:p.Thr1726Ile
NM_001354260.1:c.4991C>T	NP_001341189.1:p.Thr1664Ile
NM_001354261.1:c.5135C>T	NP_001341190.1:p.Thr1712Ile
NM_001354262.1:c.5114C>T	NP_001341191.1:p.Thr1705Ile
NM_001354264.1:c.5111C>T	NP_001341193.1:p.Thr1704Ile
NM_001354265.1:c.5273C>T	NP_001341194.1:p.Thr1758Ile
NM_001354266.1:c.5090C>T	NP_001341195.1:p.Thr1697Ile
NM_001354267.1:c.5090C>T	NP_001341196.1:p.Thr1697Ile
NM_001354268.1:c.5078C>T	NP_001341197.1:p.Thr1693Ile
NM_001354269.1:c.5063C>T	NP_001341198.1:p.Thr1688Ile
NM_001354270.1:c.5051C>T	NP_001341199.1:p.Thr1684Ile
NM_001354271.1:c.4991C>T	NP_001341200.1:p.Thr1664Ile
NM_001354272.1:c.5147C>T	NP_001341201.1:p.Thr1716Ile
NM_001354273.1:c.4976C>T	NP_001341202.1:p.Thr1659Ile
NM_001354274.1:c.5042C>T	NP_001341203.1:p.Thr1681Ile
NM_001354275.1:c.5114C>T	NP_001341204.1:p.Thr1705Ile
NM_001354276.1:c.5090C>T	NP_001341205.1:p.Thr1697Ile
NM_001354277.1:c.4892C>T	NP_001341206.1:p.Thr1631Ile
NM_001354278.1:c.2804C>T	NP_001341207.1:p.Thr935Ile
NM_001354279.1:c.2840C>T	NP_001341208.1:p.Thr947Ile
NM_001354280.1:c.2825C>T	NP_001341209.1:p.Thr942Ile
NM_001354281.1:c.2804C>T	NP_001341210.1:p.Thr935Ile
NM_001354282.1:c.2840C>T	NP_001341211.1:p.Thr947Ile
NM_020977.4:c.5276C>T	NP_066187.2:p.Thr1759Ile
XM_005262945.3:c.11432C>T	XP_005263002.1:p.Thr3811Ile
XM_017008067.1:c.11672C>T	XP_016863556.1:p.Thr3891Ile
XM_017008069.1:c.11648C>T	XP_016863558.1:p.Thr3883Ile
XM_017008071.2:c.11558C>T	XP_016863560.1:p.Thr3853Ile
XM_017008072.2:c.11534C>T	XP_016863561.1:p.Thr3845Ile
XM_017008073.2:c.11531C>T	XP_016863562.1:p.Thr3844Ile
XM_017008074.2:c.11504C>T	XP_016863563.1:p.Thr3835Ile
XM_017008075.2:c.11468C>T	XP_016863564.1:p.Thr3823Ile
XM_017008076.2:c.11531C>T	XP_016863565.1:p.Thr3844Ile
XM_017008077.2:c.11345C>T	XP_016863566.1:p.Thr3782Ile
XM_017008078.2:c.5276C>T	XP_016863567.1:p.Thr1759Ile
XM_017008080.2:c.5126C>T	XP_016863569.1:p.Thr1709Ile
XM_024454016.1:c.11567C>T	XP_024309784.1:p.Thr3856Ile
XM_024454017.1:c.5312C>T	XP_024309785.1:p.Thr1771Ile
XM_024454018.1:c.5177C>T	XP_024309786.1:p.Thr1726Ile
XM_024454019.1:c.5255C>T	XP_024309787.1:p.Thr1752Ile
XM_024454020.1:c.5177C>T	XP_024309788.1:p.Thr1726Ile
XM_024454021.1:c.5174C>T	XP_024309789.1:p.Thr1725Ile
XM_024454022.1:c.5114C>T	XP_024309790.1:p.Thr1705Ile
XM_024454023.1:c.4976C>T	XP_024309791.1:p.Thr1659Ile
NM_001148.6:c.11531C>T MANE Select	NP_001139.3:p.Thr3844Ile
NM_001127493.3:c.5249C>T	NP_001120965.1:p.Thr1750Ile
NM_001354225.2:c.5288C>T	NP_001341154.1:p.Thr1763Ile
NM_001354228.2:c.5177C>T	NP_001341157.1:p.Thr1726Ile
NM_001354230.2:c.5255C>T	NP_001341159.1:p.Thr1752Ile
NM_001354231.2:c.5318C>T	NP_001341160.1:p.Thr1773Ile
NM_001354232.2:c.5312C>T	NP_001341161.1:p.Thr1771Ile
NM_001354235.2:c.5273C>T	NP_001341164.1:p.Thr1758Ile
NM_001354236.2:c.5174C>T	NP_001341165.1:p.Thr1725Ile
NM_001354237.2:c.5354C>T	NP_001341166.1:p.Thr1785Ile
NM_001354239.2:c.5246C>T	NP_001341168.1:p.Thr1749Ile
NM_001354240.2:c.5321C>T	NP_001341169.1:p.Thr1774Ile
NM_001354241.2:c.5321C>T	NP_001341170.1:p.Thr1774Ile
NM_001354242.2:c.5318C>T	NP_001341171.1:p.Thr1773Ile
NM_001354243.2:c.5213C>T	NP_001341172.1:p.Thr1738Ile
NM_001354244.2:c.5210C>T	NP_001341173.1:p.Thr1737Ile
NM_001354245.2:c.5114C>T	NP_001341174.1:p.Thr1705Ile
NM_001354246.2:c.5273C>T	NP_001341175.1:p.Thr1758Ile
NM_001354249.2:c.5090C>T	NP_001341178.1:p.Thr1697Ile
NM_001354252.2:c.5246C>T	NP_001341181.1:p.Thr1749Ile
NM_001354253.2:c.5051C>T	NP_001341182.1:p.Thr1684Ile
NM_001354254.2:c.5225C>T	NP_001341183.1:p.Thr1742Ile
NM_001354255.2:c.5213C>T	NP_001341184.1:p.Thr1738Ile
NM_001354256.2:c.5210C>T	NP_001341185.1:p.Thr1737Ile
NM_001354257.2:c.5015C>T	NP_001341186.1:p.Thr1672Ile
NM_001354258.2:c.5177C>T	NP_001341187.1:p.Thr1726Ile
NM_001354260.2:c.4991C>T	NP_001341189.1:p.Thr1664Ile
NM_001354261.2:c.5135C>T	NP_001341190.1:p.Thr1712Ile
NM_001354262.2:c.5114C>T	NP_001341191.1:p.Thr1705Ile
NM_001354264.2:c.5111C>T	NP_001341193.1:p.Thr1704Ile
NM_001354265.2:c.5273C>T	NP_001341194.1:p.Thr1758Ile
NM_001354266.2:c.5090C>T	NP_001341195.1:p.Thr1697Ile
NM_001354267.2:c.5090C>T	NP_001341196.1:p.Thr1697Ile
NM_001354268.2:c.5078C>T	NP_001341197.1:p.Thr1693Ile
NM_001354269.3:c.5063C>T	NP_001341198.1:p.Thr1688Ile
NM_001354270.2:c.5051C>T	NP_001341199.1:p.Thr1684Ile
NM_001354271.2:c.4991C>T	NP_001341200.1:p.Thr1664Ile
NM_001354272.2:c.5147C>T	NP_001341201.1:p.Thr1716Ile
NM_001354273.2:c.4976C>T	NP_001341202.1:p.Thr1659Ile
NM_001354274.2:c.5042C>T	NP_001341203.1:p.Thr1681Ile
NM_001354275.2:c.5114C>T	NP_001341204.1:p.Thr1705Ile
NM_001354276.2:c.5090C>T	NP_001341205.1:p.Thr1697Ile
NM_001354277.2:c.4892C>T	NP_001341206.1:p.Thr1631Ile
NM_001354278.2:c.2804C>T	NP_001341207.1:p.Thr935Ile
NM_001354279.2:c.2840C>T	NP_001341208.1:p.Thr947Ile
NM_001354280.2:c.2825C>T	NP_001341209.1:p.Thr942Ile
NM_001354281.2:c.2804C>T	NP_001341210.1:p.Thr935Ile
NM_001354282.2:c.2840C>T	NP_001341211.1:p.Thr947Ile
NM_001386142.1:c.11297C>T	NP_001373071.1:p.Thr3766Ile
NM_001386143.1:c.5213C>T	NP_001373072.1:p.Thr1738Ile
NM_001386144.1:c.5321C>T	NP_001373073.1:p.Thr1774Ile
NM_001386146.1:c.5057C>T	NP_001373075.1:p.Thr1686Ile
NM_001386147.1:c.5102C>T	NP_001373076.1:p.Thr1701Ile
NM_001386148.2:c.5261C>T	NP_001373077.1:p.Thr1754Ile
NM_001386149.1:c.5057C>T	NP_001373078.1:p.Thr1686Ile
NM_001386150.1:c.5057C>T	NP_001373079.1:p.Thr1686Ile
NM_001386151.1:c.4991C>T	NP_001373080.1:p.Thr1664Ile
NM_001386152.1:c.5333C>T	NP_001373081.1:p.Thr1778Ile
NM_001386153.1:c.5057C>T	NP_001373082.1:p.Thr1686Ile
NM_001386154.1:c.5042C>T	NP_001373083.1:p.Thr1681Ile
NM_001386156.1:c.5015C>T	NP_001373085.1:p.Thr1672Ile
NM_001386157.1:c.4892C>T	NP_001373086.1:p.Thr1631Ile
NM_001386158.1:c.4793C>T	NP_001373087.1:p.Thr1598Ile
NM_001386160.1:c.5120C>T	NP_001373089.1:p.Thr1707Ile
NM_001386161.1:c.5210C>T	NP_001373090.1:p.Thr1737Ile
NM_001386162.1:c.5090C>T	NP_001373091.1:p.Thr1697Ile
NM_001386166.1:c.7931C>T	NP_001373095.1:p.Thr2644Ile
NM_001386167.1:c.1676C>T	NP_001373096.1:p.Thr559Ile
NM_001386174.1:c.11672C>T	NP_001373103.1:p.Thr3891Ile
NM_001386175.1:c.11648C>T	NP_001373104.1:p.Thr3883Ile
NM_001386186.2:c.5261C>T	NP_001373115.1:p.Thr1754Ile
NM_001386187.2:c.5141C>T	NP_001373116.1:p.Thr1714Ile
NM_020977.5:c.5276C>T	NP_066187.2:p.Thr1759Ile