Canonical Allele Identifier: CA357942252

Gene: ANK2

Linked Data

• MyVariant Identifiers: chr4:g.114288923A>T (hg19) ; chr4:g.113367767A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.113367767A>T , CM000666.2:g.113367767A>T	GRCh38
NC_000004.11:g.114288923A>T , CM000666.1:g.114288923A>T	GRCh37
NC_000004.10:g.114508372A>T	NCBI36
NG_009006.2:g.554685A>T , LRG_327:g.554685A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000506344.6:c.11375A>T	ENSP00000422888.2:p.His3792Leu
ENST00000705785.1:c.5060A>T	ENSP00000516169.1:p.His1687Leu
ENST00000510275.8:c.1661A>T	ENSP00000421023.4:p.His554Leu
ENST00000612754.2:c.2159A>T	ENSP00000482888.2:p.His720Leu
ENST00000681990.1:n.2616A>T
ENST00000682049.1:n.1824A>T
ENST00000682959.1:n.2568A>T
ENST00000683389.1:n.1397A>T
ENST00000683826.1:n.3359A>T
ENST00000683893.1:n.1340A>T
ENST00000683908.1:n.1733A>T
ENST00000683972.1:n.8079A>T
ENST00000684225.1:n.2705A>T
ENST00000684378.1:n.689A>T
ENST00000684470.1:n.3123A>T
ENST00000684730.1:n.1338A>T
ENST00000357077.9:c.11234A>T MANE Select	ENSP00000349588.4:p.His3745Leu
ENST00000503423.6:c.11072A>T	ENSP00000421011.2:p.His3691Leu
ENST00000505342.6:c.2366A>T	ENSP00000422498.2:p.His789Leu
ENST00000510275.7:c.689A>T	ENSP00000421023.3:p.His230Leu
ENST00000671704.1:c.4793A>T	ENSP00000500926.1:p.His1598Leu
ENST00000671727.1:c.4880A>T	ENSP00000500102.1:p.His1627Leu
ENST00000671756.1:c.4817A>T	ENSP00000500712.1:p.His1606Leu
ENST00000671762.1:c.5015A>T	ENSP00000500954.1:p.His1672Leu
ENST00000671793.1:c.4916A>T	ENSP00000499928.1:p.His1639Leu
ENST00000671809.1:c.11108A>T	ENSP00000500872.1:p.His3703Leu
ENST00000671825.1:c.4916A>T	ENSP00000500459.1:p.His1639Leu
ENST00000671854.1:c.4718A>T	ENSP00000500833.1:p.His1573Leu
ENST00000671863.1:c.*472A>T	ENSP00000500855.1:n.*472A>T
ENST00000671882.1:c.11051A>T	ENSP00000499887.1:p.His3684Leu
ENST00000671893.1:c.4595A>T	ENSP00000499986.1:p.His1532Leu
ENST00000671906.1:c.11048A>T	ENSP00000499953.1:p.His3683Leu
ENST00000671951.1:c.4694A>T	ENSP00000500528.1:p.His1565Leu
ENST00000671971.1:c.11279A>T	ENSP00000499832.1:p.His3760Leu
ENST00000672045.1:c.4817A>T	ENSP00000499959.1:p.His1606Leu
ENST00000672068.1:c.11072A>T	ENSP00000499902.1:p.His3691Leu
ENST00000672088.1:c.4793A>T	ENSP00000499837.1:p.His1598Leu
ENST00000672090.1:c.11072A>T	ENSP00000500540.1:p.His3691Leu
ENST00000672177.1:c.4829A>T	ENSP00000500918.1:p.His1610Leu
ENST00000672209.1:c.11072A>T	ENSP00000499982.1:p.His3691Leu
ENST00000672221.1:c.4814A>T	ENSP00000500473.1:p.His1605Leu
ENST00000672240.1:c.11315A>T	ENSP00000500548.1:p.His3772Leu
ENST00000672246.1:c.4802A>T	ENSP00000499990.1:p.His1601Leu
ENST00000672251.1:c.11036A>T	ENSP00000500580.1:p.His3679Leu
ENST00000672312.1:c.4817A>T	ENSP00000500378.1:p.His1606Leu
ENST00000672315.1:c.4916A>T	ENSP00000500780.1:p.His1639Leu
ENST00000672350.1:c.4754A>T	ENSP00000500420.1:p.His1585Leu
ENST00000672356.1:c.4694A>T	ENSP00000500544.1:p.His1565Leu
ENST00000672362.1:c.4952A>T	ENSP00000500522.1:p.His1651Leu
ENST00000672366.1:c.4880A>T	ENSP00000500937.1:p.His1627Leu
ENST00000672402.1:c.4916A>T	ENSP00000500881.1:p.His1639Leu
ENST00000672411.1:c.2543A>T	ENSP00000499979.1:p.His848Leu
ENST00000672502.1:c.11135A>T	ENSP00000499870.1:p.His3712Leu
ENST00000672684.1:c.4718A>T	ENSP00000499943.1:p.His1573Leu
ENST00000672696.1:c.4916A>T	ENSP00000499828.1:p.His1639Leu
ENST00000672731.1:c.4793A>T	ENSP00000500908.1:p.His1598Leu
ENST00000672759.1:c.4694A>T	ENSP00000499881.1:p.His1565Leu
ENST00000672779.1:c.5024A>T	ENSP00000499869.1:p.His1675Leu
ENST00000672793.1:c.4817A>T	ENSP00000500150.1:p.His1606Leu
ENST00000672830.1:c.11171A>T	ENSP00000500222.1:p.His3724Leu
ENST00000672854.1:c.4781A>T	ENSP00000500311.1:p.His1594Leu
ENST00000672880.1:c.4817A>T	ENSP00000500866.1:p.His1606Leu
ENST00000672915.1:c.2366A>T	ENSP00000500622.1:p.His789Leu
ENST00000672930.1:c.11072A>T	ENSP00000499913.1:p.His3691Leu
ENST00000672934.1:c.10973A>T	ENSP00000500645.1:p.His3658Leu
ENST00000672955.1:c.4793A>T	ENSP00000500527.1:p.His1598Leu
ENST00000672965.1:c.4853A>T	ENSP00000499891.1:p.His1618Leu
ENST00000672986.1:c.4397A>T	ENSP00000499967.1:p.His1466Leu
ENST00000672990.1:c.4853A>T	ENSP00000500275.1:p.His1618Leu
ENST00000673044.1:c.4916A>T	ENSP00000500933.1:p.His1639Leu
ENST00000673048.1:c.2528A>T	ENSP00000500832.1:p.His843Leu
ENST00000673109.1:c.10949A>T	ENSP00000500265.1:p.His3650Leu
ENST00000673231.1:c.2543A>T	ENSP00000500111.1:p.His848Leu
ENST00000673240.1:c.5024A>T	ENSP00000499996.1:p.His1675Leu
ENST00000673255.1:c.4817A>T	ENSP00000500423.1:p.His1606Leu
ENST00000673298.1:c.11072A>T	ENSP00000500245.1:p.His3691Leu
ENST00000673334.1:c.11072A>T	ENSP00000500854.1:p.His3691Leu
ENST00000673353.1:c.2507A>T	ENSP00000500007.1:p.His836Leu
ENST00000673363.1:c.11180A>T	ENSP00000500539.1:p.His3727Leu
ENST00000673430.1:c.4817A>T	ENSP00000500269.1:p.His1606Leu
ENST00000673453.1:c.4745A>T	ENSP00000500112.1:p.His1582Leu
ENST00000673536.1:c.4487A>T	ENSP00000500524.1:p.His1496Leu
ENST00000673538.1:c.*472A>T	ENSP00000500842.1:n.*472A>T
ENST00000673546.1:c.4754A>T	ENSP00000500843.1:p.His1585Leu
ENST00000673555.1:c.11072A>T	ENSP00000500947.1:p.His3691Leu
ENST00000673573.1:c.11009A>T	ENSP00000500883.1:p.His3670Leu
ENST00000264366.10:c.11135A>T	ENSP00000264366.6:p.His3712Leu
ENST00000357077.8:c.11234A>T	ENSP00000349588.4:p.His3745Leu
ENST00000394537.7:c.4979A>T	ENSP00000378044.3:p.His1660Leu
ENST00000505342.5:c.2264A>T	ENSP00000422498.1:p.His755Leu
ENST00000506722.5:c.4952A>T	ENSP00000421067.1:p.His1651Leu
ENST00000509550.5:c.2507A>T	ENSP00000426944.1:p.His836Leu
ENST00000510275.6:c.935A>T	ENSP00000421023.2:p.His312Leu
ENST00000514960.5:c.1983A>T
ENST00000612754.1:c.*2595A>T	ENSP00000482888.1:n.*2595A>T
NM_001127493.1:c.4952A>T , LRG_327t2:c.4952A>T	NP_001120965.1:p.His1651Leu
NM_001148.4:c.11234A>T , LRG_327t1:c.11234A>T	NP_001139.3:p.His3745Leu
NM_020977.3:c.4979A>T	NP_066187.2:p.His1660Leu
XM_005262942.3:c.11267A>T	XP_005262999.1:p.His3756Leu
XM_005262945.1:c.11135A>T	XP_005263002.1:p.His3712Leu
XM_005262948.3:c.4976A>T	XP_005263005.1:p.His1659Leu
XM_006714188.2:c.11321A>T	XP_006714251.1:p.His3774Leu
XM_006714189.2:c.11285A>T	XP_006714252.1:p.His3762Leu
XM_006714190.2:c.5033A>T	XP_006714253.1:p.His1678Leu
XM_006714191.2:c.5066A>T	XP_006714254.1:p.His1689Leu
XM_006714192.2:c.4997A>T	XP_006714255.1:p.His1666Leu
XM_006714193.2:c.5066A>T	XP_006714256.1:p.His1689Leu
XM_006714194.2:c.11261A>T	XP_006714257.1:p.His3754Leu
XM_011531891.1:c.11306A>T	XP_011530193.1:p.His3769Leu
NM_001127493.2:c.4952A>T	NP_001120965.1:p.His1651Leu
NM_001148.5:c.11234A>T	NP_001139.3:p.His3745Leu
NM_001354225.1:c.4991A>T	NP_001341154.1:p.His1664Leu
NM_001354228.1:c.4880A>T	NP_001341157.1:p.His1627Leu
NM_001354230.1:c.4958A>T	NP_001341159.1:p.His1653Leu
NM_001354231.1:c.5021A>T	NP_001341160.1:p.His1674Leu
NM_001354232.1:c.5015A>T	NP_001341161.1:p.His1672Leu
NM_001354235.1:c.4976A>T	NP_001341164.1:p.His1659Leu
NM_001354236.1:c.4877A>T	NP_001341165.1:p.His1626Leu
NM_001354237.1:c.5057A>T	NP_001341166.1:p.His1686Leu
NM_001354239.1:c.4949A>T	NP_001341168.1:p.His1650Leu
NM_001354240.1:c.5024A>T	NP_001341169.1:p.His1675Leu
NM_001354241.1:c.5024A>T	NP_001341170.1:p.His1675Leu
NM_001354242.1:c.5021A>T	NP_001341171.1:p.His1674Leu
NM_001354243.1:c.4916A>T	NP_001341172.1:p.His1639Leu
NM_001354244.1:c.4913A>T	NP_001341173.1:p.His1638Leu
NM_001354245.1:c.4817A>T	NP_001341174.1:p.His1606Leu
NM_001354246.1:c.4976A>T	NP_001341175.1:p.His1659Leu
NM_001354249.1:c.4793A>T	NP_001341178.1:p.His1598Leu
NM_001354252.1:c.4949A>T	NP_001341181.1:p.His1650Leu
NM_001354253.1:c.4754A>T	NP_001341182.1:p.His1585Leu
NM_001354254.1:c.4928A>T	NP_001341183.1:p.His1643Leu
NM_001354255.1:c.4916A>T	NP_001341184.1:p.His1639Leu
NM_001354256.1:c.4913A>T	NP_001341185.1:p.His1638Leu
NM_001354257.1:c.4718A>T	NP_001341186.1:p.His1573Leu
NM_001354258.1:c.4880A>T	NP_001341187.1:p.His1627Leu
NM_001354260.1:c.4694A>T	NP_001341189.1:p.His1565Leu
NM_001354261.1:c.4838A>T	NP_001341190.1:p.His1613Leu
NM_001354262.1:c.4817A>T	NP_001341191.1:p.His1606Leu
NM_001354264.1:c.4814A>T	NP_001341193.1:p.His1605Leu
NM_001354265.1:c.4976A>T	NP_001341194.1:p.His1659Leu
NM_001354266.1:c.4793A>T	NP_001341195.1:p.His1598Leu
NM_001354267.1:c.4793A>T	NP_001341196.1:p.His1598Leu
NM_001354268.1:c.4781A>T	NP_001341197.1:p.His1594Leu
NM_001354269.1:c.4766A>T	NP_001341198.1:p.His1589Leu
NM_001354270.1:c.4754A>T	NP_001341199.1:p.His1585Leu
NM_001354271.1:c.4694A>T	NP_001341200.1:p.His1565Leu
NM_001354272.1:c.4850A>T	NP_001341201.1:p.His1617Leu
NM_001354273.1:c.4679A>T	NP_001341202.1:p.His1560Leu
NM_001354274.1:c.4745A>T	NP_001341203.1:p.His1582Leu
NM_001354275.1:c.4817A>T	NP_001341204.1:p.His1606Leu
NM_001354276.1:c.4793A>T	NP_001341205.1:p.His1598Leu
NM_001354277.1:c.4595A>T	NP_001341206.1:p.His1532Leu
NM_001354278.1:c.2507A>T	NP_001341207.1:p.His836Leu
NM_001354279.1:c.2543A>T	NP_001341208.1:p.His848Leu
NM_001354280.1:c.2528A>T	NP_001341209.1:p.His843Leu
NM_001354281.1:c.2507A>T	NP_001341210.1:p.His836Leu
NM_001354282.1:c.2543A>T	NP_001341211.1:p.His848Leu
NM_020977.4:c.4979A>T	NP_066187.2:p.His1660Leu
XM_005262945.3:c.11135A>T	XP_005263002.1:p.His3712Leu
XM_017008067.1:c.11375A>T	XP_016863556.1:p.His3792Leu
XM_017008069.1:c.11351A>T	XP_016863558.1:p.His3784Leu
XM_017008071.2:c.11261A>T	XP_016863560.1:p.His3754Leu
XM_017008072.2:c.11237A>T	XP_016863561.1:p.His3746Leu
XM_017008073.2:c.11234A>T	XP_016863562.1:p.His3745Leu
XM_017008074.2:c.11207A>T	XP_016863563.1:p.His3736Leu
XM_017008075.2:c.11171A>T	XP_016863564.1:p.His3724Leu
XM_017008076.2:c.11234A>T	XP_016863565.1:p.His3745Leu
XM_017008077.2:c.11048A>T	XP_016863566.1:p.His3683Leu
XM_017008078.2:c.4979A>T	XP_016863567.1:p.His1660Leu
XM_017008080.2:c.4829A>T	XP_016863569.1:p.His1610Leu
XM_024454016.1:c.11270A>T	XP_024309784.1:p.His3757Leu
XM_024454017.1:c.5015A>T	XP_024309785.1:p.His1672Leu
XM_024454018.1:c.4880A>T	XP_024309786.1:p.His1627Leu
XM_024454019.1:c.4958A>T	XP_024309787.1:p.His1653Leu
XM_024454020.1:c.4880A>T	XP_024309788.1:p.His1627Leu
XM_024454021.1:c.4877A>T	XP_024309789.1:p.His1626Leu
XM_024454022.1:c.4817A>T	XP_024309790.1:p.His1606Leu
XM_024454023.1:c.4679A>T	XP_024309791.1:p.His1560Leu
NM_001148.6:c.11234A>T MANE Select	NP_001139.3:p.His3745Leu
NM_001127493.3:c.4952A>T	NP_001120965.1:p.His1651Leu
NM_001354225.2:c.4991A>T	NP_001341154.1:p.His1664Leu
NM_001354228.2:c.4880A>T	NP_001341157.1:p.His1627Leu
NM_001354230.2:c.4958A>T	NP_001341159.1:p.His1653Leu
NM_001354231.2:c.5021A>T	NP_001341160.1:p.His1674Leu
NM_001354232.2:c.5015A>T	NP_001341161.1:p.His1672Leu
NM_001354235.2:c.4976A>T	NP_001341164.1:p.His1659Leu
NM_001354236.2:c.4877A>T	NP_001341165.1:p.His1626Leu
NM_001354237.2:c.5057A>T	NP_001341166.1:p.His1686Leu
NM_001354239.2:c.4949A>T	NP_001341168.1:p.His1650Leu
NM_001354240.2:c.5024A>T	NP_001341169.1:p.His1675Leu
NM_001354241.2:c.5024A>T	NP_001341170.1:p.His1675Leu
NM_001354242.2:c.5021A>T	NP_001341171.1:p.His1674Leu
NM_001354243.2:c.4916A>T	NP_001341172.1:p.His1639Leu
NM_001354244.2:c.4913A>T	NP_001341173.1:p.His1638Leu
NM_001354245.2:c.4817A>T	NP_001341174.1:p.His1606Leu
NM_001354246.2:c.4976A>T	NP_001341175.1:p.His1659Leu
NM_001354249.2:c.4793A>T	NP_001341178.1:p.His1598Leu
NM_001354252.2:c.4949A>T	NP_001341181.1:p.His1650Leu
NM_001354253.2:c.4754A>T	NP_001341182.1:p.His1585Leu
NM_001354254.2:c.4928A>T	NP_001341183.1:p.His1643Leu
NM_001354255.2:c.4916A>T	NP_001341184.1:p.His1639Leu
NM_001354256.2:c.4913A>T	NP_001341185.1:p.His1638Leu
NM_001354257.2:c.4718A>T	NP_001341186.1:p.His1573Leu
NM_001354258.2:c.4880A>T	NP_001341187.1:p.His1627Leu
NM_001354260.2:c.4694A>T	NP_001341189.1:p.His1565Leu
NM_001354261.2:c.4838A>T	NP_001341190.1:p.His1613Leu
NM_001354262.2:c.4817A>T	NP_001341191.1:p.His1606Leu
NM_001354264.2:c.4814A>T	NP_001341193.1:p.His1605Leu
NM_001354265.2:c.4976A>T	NP_001341194.1:p.His1659Leu
NM_001354266.2:c.4793A>T	NP_001341195.1:p.His1598Leu
NM_001354267.2:c.4793A>T	NP_001341196.1:p.His1598Leu
NM_001354268.2:c.4781A>T	NP_001341197.1:p.His1594Leu
NM_001354269.3:c.4766A>T	NP_001341198.1:p.His1589Leu
NM_001354270.2:c.4754A>T	NP_001341199.1:p.His1585Leu
NM_001354271.2:c.4694A>T	NP_001341200.1:p.His1565Leu
NM_001354272.2:c.4850A>T	NP_001341201.1:p.His1617Leu
NM_001354273.2:c.4679A>T	NP_001341202.1:p.His1560Leu
NM_001354274.2:c.4745A>T	NP_001341203.1:p.His1582Leu
NM_001354275.2:c.4817A>T	NP_001341204.1:p.His1606Leu
NM_001354276.2:c.4793A>T	NP_001341205.1:p.His1598Leu
NM_001354277.2:c.4595A>T	NP_001341206.1:p.His1532Leu
NM_001354278.2:c.2507A>T	NP_001341207.1:p.His836Leu
NM_001354279.2:c.2543A>T	NP_001341208.1:p.His848Leu
NM_001354280.2:c.2528A>T	NP_001341209.1:p.His843Leu
NM_001354281.2:c.2507A>T	NP_001341210.1:p.His836Leu
NM_001354282.2:c.2543A>T	NP_001341211.1:p.His848Leu
NM_001386142.1:c.11000A>T	NP_001373071.1:p.His3667Leu
NM_001386143.1:c.4916A>T	NP_001373072.1:p.His1639Leu
NM_001386144.1:c.5024A>T	NP_001373073.1:p.His1675Leu
NM_001386146.1:c.4760A>T	NP_001373075.1:p.His1587Leu
NM_001386147.1:c.4805A>T	NP_001373076.1:p.His1602Leu
NM_001386148.2:c.4964A>T	NP_001373077.1:p.His1655Leu
NM_001386149.1:c.4760A>T	NP_001373078.1:p.His1587Leu
NM_001386150.1:c.4760A>T	NP_001373079.1:p.His1587Leu
NM_001386151.1:c.4694A>T	NP_001373080.1:p.His1565Leu
NM_001386152.1:c.5036A>T	NP_001373081.1:p.His1679Leu
NM_001386153.1:c.4760A>T	NP_001373082.1:p.His1587Leu
NM_001386154.1:c.4745A>T	NP_001373083.1:p.His1582Leu
NM_001386156.1:c.4718A>T	NP_001373085.1:p.His1573Leu
NM_001386157.1:c.4595A>T	NP_001373086.1:p.His1532Leu
NM_001386158.1:c.4496A>T	NP_001373087.1:p.His1499Leu
NM_001386160.1:c.4823A>T	NP_001373089.1:p.His1608Leu
NM_001386161.1:c.4913A>T	NP_001373090.1:p.His1638Leu
NM_001386162.1:c.4793A>T	NP_001373091.1:p.His1598Leu
NM_001386166.1:c.7634A>T	NP_001373095.1:p.His2545Leu
NM_001386167.1:c.1379A>T	NP_001373096.1:p.His460Leu
NM_001386174.1:c.11375A>T	NP_001373103.1:p.His3792Leu
NM_001386175.1:c.11351A>T	NP_001373104.1:p.His3784Leu
NM_001386186.2:c.4964A>T	NP_001373115.1:p.His1655Leu
NM_001386187.2:c.4844A>T	NP_001373116.1:p.His1615Leu
NM_020977.5:c.4979A>T	NP_066187.2:p.His1660Leu