Canonical Allele Identifier: CA357941450
Gene: ANK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.113363464C>A , CM000666.2:g.113363464C>A GRCh38
NC_000004.11:g.114284620C>A , CM000666.1:g.114284620C>A GRCh37
NC_000004.10:g.114504069C>A NCBI36
NG_009006.2:g.550382C>A , LRG_327:g.550382C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000506344.6:c.11024C>A ENSP00000422888.2:p.Ala3675Asp
ENST00000705785.1:c.4709C>A ENSP00000516169.1:p.Ala1570Asp
ENST00000510275.8:c.1310C>A ENSP00000421023.4:p.Ala437Asp
ENST00000612754.2:c.1808C>A ENSP00000482888.2:p.Ala603Asp
ENST00000681990.1:n.2265C>A
ENST00000682049.1:n.1473C>A
ENST00000682959.1:n.2217C>A
ENST00000683389.1:n.1046C>A
ENST00000683826.1:n.3008C>A
ENST00000683908.1:n.1382C>A
ENST00000683972.1:n.7728C>A
ENST00000684225.1:n.2354C>A
ENST00000684470.1:n.2772C>A
ENST00000357077.9:c.10883C>A MANE Select ENSP00000349588.4:p.Ala3628Asp
ENST00000503423.6:c.10721C>A ENSP00000421011.2:p.Ala3574Asp
ENST00000505342.6:c.2015C>A ENSP00000422498.2:p.Ala672Asp
ENST00000510275.7:c.338C>A ENSP00000421023.3:p.Ala113Asp
ENST00000671704.1:c.4442C>A ENSP00000500926.1:p.Ala1481Asp
ENST00000671727.1:c.4529C>A ENSP00000500102.1:p.Ala1510Asp
ENST00000671756.1:c.4466C>A ENSP00000500712.1:p.Ala1489Asp
ENST00000671762.1:c.4664C>A ENSP00000500954.1:p.Ala1555Asp
ENST00000671793.1:c.4565C>A ENSP00000499928.1:p.Ala1522Asp
ENST00000671809.1:c.10757C>A ENSP00000500872.1:p.Ala3586Asp
ENST00000671825.1:c.4565C>A ENSP00000500459.1:p.Ala1522Asp
ENST00000671854.1:c.4367C>A ENSP00000500833.1:p.Ala1456Asp
ENST00000671863.1:c.*121C>A ENSP00000500855.1:n.*121C>A
ENST00000671882.1:c.10700C>A ENSP00000499887.1:p.Ala3567Asp
ENST00000671893.1:c.4244C>A ENSP00000499986.1:p.Ala1415Asp
ENST00000671906.1:c.10697C>A ENSP00000499953.1:p.Ala3566Asp
ENST00000671951.1:c.4343C>A ENSP00000500528.1:p.Ala1448Asp
ENST00000671971.1:c.10928C>A ENSP00000499832.1:p.Ala3643Asp
ENST00000672045.1:c.4466C>A ENSP00000499959.1:p.Ala1489Asp
ENST00000672068.1:c.10721C>A ENSP00000499902.1:p.Ala3574Asp
ENST00000672088.1:c.4442C>A ENSP00000499837.1:p.Ala1481Asp
ENST00000672090.1:c.10721C>A ENSP00000500540.1:p.Ala3574Asp
ENST00000672177.1:c.4478C>A ENSP00000500918.1:p.Ala1493Asp
ENST00000672209.1:c.10721C>A ENSP00000499982.1:p.Ala3574Asp
ENST00000672221.1:c.4463C>A ENSP00000500473.1:p.Ala1488Asp
ENST00000672240.1:c.10964C>A ENSP00000500548.1:p.Ala3655Asp
ENST00000672246.1:c.4451C>A ENSP00000499990.1:p.Ala1484Asp
ENST00000672251.1:c.10685C>A ENSP00000500580.1:p.Ala3562Asp
ENST00000672312.1:c.4466C>A ENSP00000500378.1:p.Ala1489Asp
ENST00000672315.1:c.4565C>A ENSP00000500780.1:p.Ala1522Asp
ENST00000672350.1:c.4403C>A ENSP00000500420.1:p.Ala1468Asp
ENST00000672356.1:c.4343C>A ENSP00000500544.1:p.Ala1448Asp
ENST00000672362.1:c.4601C>A ENSP00000500522.1:p.Ala1534Asp
ENST00000672366.1:c.4529C>A ENSP00000500937.1:p.Ala1510Asp
ENST00000672402.1:c.4565C>A ENSP00000500881.1:p.Ala1522Asp
ENST00000672411.1:c.2192C>A ENSP00000499979.1:p.Ala731Asp
ENST00000672502.1:c.10784C>A ENSP00000499870.1:p.Ala3595Asp
ENST00000672684.1:c.4367C>A ENSP00000499943.1:p.Ala1456Asp
ENST00000672696.1:c.4565C>A ENSP00000499828.1:p.Ala1522Asp
ENST00000672731.1:c.4442C>A ENSP00000500908.1:p.Ala1481Asp
ENST00000672759.1:c.4343C>A ENSP00000499881.1:p.Ala1448Asp
ENST00000672779.1:c.4673C>A ENSP00000499869.1:p.Ala1558Asp
ENST00000672793.1:c.4466C>A ENSP00000500150.1:p.Ala1489Asp
ENST00000672830.1:c.10820C>A ENSP00000500222.1:p.Ala3607Asp
ENST00000672854.1:c.4430C>A ENSP00000500311.1:p.Ala1477Asp
ENST00000672880.1:c.4466C>A ENSP00000500866.1:p.Ala1489Asp
ENST00000672915.1:c.2015C>A ENSP00000500622.1:p.Ala672Asp
ENST00000672930.1:c.10721C>A ENSP00000499913.1:p.Ala3574Asp
ENST00000672934.1:c.10622C>A ENSP00000500645.1:p.Ala3541Asp
ENST00000672955.1:c.4442C>A ENSP00000500527.1:p.Ala1481Asp
ENST00000672965.1:c.4502C>A ENSP00000499891.1:p.Ala1501Asp
ENST00000672986.1:c.4046C>A ENSP00000499967.1:p.Ala1349Asp
ENST00000672990.1:c.4502C>A ENSP00000500275.1:p.Ala1501Asp
ENST00000673044.1:c.4565C>A ENSP00000500933.1:p.Ala1522Asp
ENST00000673048.1:c.2177C>A ENSP00000500832.1:p.Ala726Asp
ENST00000673109.1:c.10598C>A ENSP00000500265.1:p.Ala3533Asp
ENST00000673231.1:c.2192C>A ENSP00000500111.1:p.Ala731Asp
ENST00000673240.1:c.4673C>A ENSP00000499996.1:p.Ala1558Asp
ENST00000673255.1:c.4466C>A ENSP00000500423.1:p.Ala1489Asp
ENST00000673298.1:c.10721C>A ENSP00000500245.1:p.Ala3574Asp
ENST00000673334.1:c.10721C>A ENSP00000500854.1:p.Ala3574Asp
ENST00000673353.1:c.2156C>A ENSP00000500007.1:p.Ala719Asp
ENST00000673363.1:c.10829C>A ENSP00000500539.1:p.Ala3610Asp
ENST00000673430.1:c.4466C>A ENSP00000500269.1:p.Ala1489Asp
ENST00000673453.1:c.4394C>A ENSP00000500112.1:p.Ala1465Asp
ENST00000673536.1:c.4136C>A ENSP00000500524.1:p.Ala1379Asp
ENST00000673538.1:c.*121C>A ENSP00000500842.1:n.*121C>A
ENST00000673546.1:c.4403C>A ENSP00000500843.1:p.Ala1468Asp
ENST00000673555.1:c.10721C>A ENSP00000500947.1:p.Ala3574Asp
ENST00000673573.1:c.10658C>A ENSP00000500883.1:p.Ala3553Asp
ENST00000264366.10:c.10784C>A ENSP00000264366.6:p.Ala3595Asp
ENST00000357077.8:c.10883C>A ENSP00000349588.4:p.Ala3628Asp
ENST00000394537.7:c.4628C>A ENSP00000378044.3:p.Ala1543Asp
ENST00000505342.5:c.1913C>A ENSP00000422498.1:p.Ala638Asp
ENST00000506722.5:c.4601C>A ENSP00000421067.1:p.Ala1534Asp
ENST00000508007.5:n.737C>A
ENST00000509550.5:c.2156C>A ENSP00000426944.1:p.Ala719Asp
ENST00000510275.6:c.584C>A ENSP00000421023.2:p.Ala195Asp
ENST00000514960.5:c.1632C>A
ENST00000612754.1:c.*2244C>A ENSP00000482888.1:n.*2244C>A
NM_001127493.1:c.4601C>A , LRG_327t2:c.4601C>A NP_001120965.1:p.Ala1534Asp
NM_001148.4:c.10883C>A , LRG_327t1:c.10883C>A NP_001139.3:p.Ala3628Asp
NM_020977.3:c.4628C>A NP_066187.2:p.Ala1543Asp
XM_005262942.3:c.10916C>A XP_005262999.1:p.Ala3639Asp
XM_005262945.1:c.10784C>A XP_005263002.1:p.Ala3595Asp
XM_005262948.3:c.4625C>A XP_005263005.1:p.Ala1542Asp
XM_006714188.2:c.10970C>A XP_006714251.1:p.Ala3657Asp
XM_006714189.2:c.10934C>A XP_006714252.1:p.Ala3645Asp
XM_006714190.2:c.4682C>A XP_006714253.1:p.Ala1561Asp
XM_006714191.2:c.4715C>A XP_006714254.1:p.Ala1572Asp
XM_006714192.2:c.4646C>A XP_006714255.1:p.Ala1549Asp
XM_006714193.2:c.4715C>A XP_006714256.1:p.Ala1572Asp
XM_006714194.2:c.10910C>A XP_006714257.1:p.Ala3637Asp
XM_011531891.1:c.10955C>A XP_011530193.1:p.Ala3652Asp
NM_001127493.2:c.4601C>A NP_001120965.1:p.Ala1534Asp
NM_001148.5:c.10883C>A NP_001139.3:p.Ala3628Asp
NM_001354225.1:c.4640C>A NP_001341154.1:p.Ala1547Asp
NM_001354228.1:c.4529C>A NP_001341157.1:p.Ala1510Asp
NM_001354230.1:c.4607C>A NP_001341159.1:p.Ala1536Asp
NM_001354231.1:c.4670C>A NP_001341160.1:p.Ala1557Asp
NM_001354232.1:c.4664C>A NP_001341161.1:p.Ala1555Asp
NM_001354235.1:c.4625C>A NP_001341164.1:p.Ala1542Asp
NM_001354236.1:c.4526C>A NP_001341165.1:p.Ala1509Asp
NM_001354237.1:c.4706C>A NP_001341166.1:p.Ala1569Asp
NM_001354239.1:c.4598C>A NP_001341168.1:p.Ala1533Asp
NM_001354240.1:c.4673C>A NP_001341169.1:p.Ala1558Asp
NM_001354241.1:c.4673C>A NP_001341170.1:p.Ala1558Asp
NM_001354242.1:c.4670C>A NP_001341171.1:p.Ala1557Asp
NM_001354243.1:c.4565C>A NP_001341172.1:p.Ala1522Asp
NM_001354244.1:c.4562C>A NP_001341173.1:p.Ala1521Asp
NM_001354245.1:c.4466C>A NP_001341174.1:p.Ala1489Asp
NM_001354246.1:c.4625C>A NP_001341175.1:p.Ala1542Asp
NM_001354249.1:c.4442C>A NP_001341178.1:p.Ala1481Asp
NM_001354252.1:c.4598C>A NP_001341181.1:p.Ala1533Asp
NM_001354253.1:c.4403C>A NP_001341182.1:p.Ala1468Asp
NM_001354254.1:c.4577C>A NP_001341183.1:p.Ala1526Asp
NM_001354255.1:c.4565C>A NP_001341184.1:p.Ala1522Asp
NM_001354256.1:c.4562C>A NP_001341185.1:p.Ala1521Asp
NM_001354257.1:c.4367C>A NP_001341186.1:p.Ala1456Asp
NM_001354258.1:c.4529C>A NP_001341187.1:p.Ala1510Asp
NM_001354260.1:c.4343C>A NP_001341189.1:p.Ala1448Asp
NM_001354261.1:c.4487C>A NP_001341190.1:p.Ala1496Asp
NM_001354262.1:c.4466C>A NP_001341191.1:p.Ala1489Asp
NM_001354264.1:c.4463C>A NP_001341193.1:p.Ala1488Asp
NM_001354265.1:c.4625C>A NP_001341194.1:p.Ala1542Asp
NM_001354266.1:c.4442C>A NP_001341195.1:p.Ala1481Asp
NM_001354267.1:c.4442C>A NP_001341196.1:p.Ala1481Asp
NM_001354268.1:c.4430C>A NP_001341197.1:p.Ala1477Asp
NM_001354269.1:c.4415C>A NP_001341198.1:p.Ala1472Asp
NM_001354270.1:c.4403C>A NP_001341199.1:p.Ala1468Asp
NM_001354271.1:c.4343C>A NP_001341200.1:p.Ala1448Asp
NM_001354272.1:c.4499C>A NP_001341201.1:p.Ala1500Asp
NM_001354273.1:c.4328C>A NP_001341202.1:p.Ala1443Asp
NM_001354274.1:c.4394C>A NP_001341203.1:p.Ala1465Asp
NM_001354275.1:c.4466C>A NP_001341204.1:p.Ala1489Asp
NM_001354276.1:c.4442C>A NP_001341205.1:p.Ala1481Asp
NM_001354277.1:c.4244C>A NP_001341206.1:p.Ala1415Asp
NM_001354278.1:c.2156C>A NP_001341207.1:p.Ala719Asp
NM_001354279.1:c.2192C>A NP_001341208.1:p.Ala731Asp
NM_001354280.1:c.2177C>A NP_001341209.1:p.Ala726Asp
NM_001354281.1:c.2156C>A NP_001341210.1:p.Ala719Asp
NM_001354282.1:c.2192C>A NP_001341211.1:p.Ala731Asp
NM_020977.4:c.4628C>A NP_066187.2:p.Ala1543Asp
XM_005262945.3:c.10784C>A XP_005263002.1:p.Ala3595Asp
XM_017008067.1:c.11024C>A XP_016863556.1:p.Ala3675Asp
XM_017008069.1:c.11000C>A XP_016863558.1:p.Ala3667Asp
XM_017008071.2:c.10910C>A XP_016863560.1:p.Ala3637Asp
XM_017008072.2:c.10886C>A XP_016863561.1:p.Ala3629Asp
XM_017008073.2:c.10883C>A XP_016863562.1:p.Ala3628Asp
XM_017008074.2:c.10856C>A XP_016863563.1:p.Ala3619Asp
XM_017008075.2:c.10820C>A XP_016863564.1:p.Ala3607Asp
XM_017008076.2:c.10883C>A XP_016863565.1:p.Ala3628Asp
XM_017008077.2:c.10697C>A XP_016863566.1:p.Ala3566Asp
XM_017008078.2:c.4628C>A XP_016863567.1:p.Ala1543Asp
XM_017008080.2:c.4478C>A XP_016863569.1:p.Ala1493Asp
XM_024454016.1:c.10919C>A XP_024309784.1:p.Ala3640Asp
XM_024454017.1:c.4664C>A XP_024309785.1:p.Ala1555Asp
XM_024454018.1:c.4529C>A XP_024309786.1:p.Ala1510Asp
XM_024454019.1:c.4607C>A XP_024309787.1:p.Ala1536Asp
XM_024454020.1:c.4529C>A XP_024309788.1:p.Ala1510Asp
XM_024454021.1:c.4526C>A XP_024309789.1:p.Ala1509Asp
XM_024454022.1:c.4466C>A XP_024309790.1:p.Ala1489Asp
XM_024454023.1:c.4328C>A XP_024309791.1:p.Ala1443Asp
NM_001148.6:c.10883C>A MANE Select NP_001139.3:p.Ala3628Asp
NM_001127493.3:c.4601C>A NP_001120965.1:p.Ala1534Asp
NM_001354225.2:c.4640C>A NP_001341154.1:p.Ala1547Asp
NM_001354228.2:c.4529C>A NP_001341157.1:p.Ala1510Asp
NM_001354230.2:c.4607C>A NP_001341159.1:p.Ala1536Asp
NM_001354231.2:c.4670C>A NP_001341160.1:p.Ala1557Asp
NM_001354232.2:c.4664C>A NP_001341161.1:p.Ala1555Asp
NM_001354235.2:c.4625C>A NP_001341164.1:p.Ala1542Asp
NM_001354236.2:c.4526C>A NP_001341165.1:p.Ala1509Asp
NM_001354237.2:c.4706C>A NP_001341166.1:p.Ala1569Asp
NM_001354239.2:c.4598C>A NP_001341168.1:p.Ala1533Asp
NM_001354240.2:c.4673C>A NP_001341169.1:p.Ala1558Asp
NM_001354241.2:c.4673C>A NP_001341170.1:p.Ala1558Asp
NM_001354242.2:c.4670C>A NP_001341171.1:p.Ala1557Asp
NM_001354243.2:c.4565C>A NP_001341172.1:p.Ala1522Asp
NM_001354244.2:c.4562C>A NP_001341173.1:p.Ala1521Asp
NM_001354245.2:c.4466C>A NP_001341174.1:p.Ala1489Asp
NM_001354246.2:c.4625C>A NP_001341175.1:p.Ala1542Asp
NM_001354249.2:c.4442C>A NP_001341178.1:p.Ala1481Asp
NM_001354252.2:c.4598C>A NP_001341181.1:p.Ala1533Asp
NM_001354253.2:c.4403C>A NP_001341182.1:p.Ala1468Asp
NM_001354254.2:c.4577C>A NP_001341183.1:p.Ala1526Asp
NM_001354255.2:c.4565C>A NP_001341184.1:p.Ala1522Asp
NM_001354256.2:c.4562C>A NP_001341185.1:p.Ala1521Asp
NM_001354257.2:c.4367C>A NP_001341186.1:p.Ala1456Asp
NM_001354258.2:c.4529C>A NP_001341187.1:p.Ala1510Asp
NM_001354260.2:c.4343C>A NP_001341189.1:p.Ala1448Asp
NM_001354261.2:c.4487C>A NP_001341190.1:p.Ala1496Asp
NM_001354262.2:c.4466C>A NP_001341191.1:p.Ala1489Asp
NM_001354264.2:c.4463C>A NP_001341193.1:p.Ala1488Asp
NM_001354265.2:c.4625C>A NP_001341194.1:p.Ala1542Asp
NM_001354266.2:c.4442C>A NP_001341195.1:p.Ala1481Asp
NM_001354267.2:c.4442C>A NP_001341196.1:p.Ala1481Asp
NM_001354268.2:c.4430C>A NP_001341197.1:p.Ala1477Asp
NM_001354269.3:c.4415C>A NP_001341198.1:p.Ala1472Asp
NM_001354270.2:c.4403C>A NP_001341199.1:p.Ala1468Asp
NM_001354271.2:c.4343C>A NP_001341200.1:p.Ala1448Asp
NM_001354272.2:c.4499C>A NP_001341201.1:p.Ala1500Asp
NM_001354273.2:c.4328C>A NP_001341202.1:p.Ala1443Asp
NM_001354274.2:c.4394C>A NP_001341203.1:p.Ala1465Asp
NM_001354275.2:c.4466C>A NP_001341204.1:p.Ala1489Asp
NM_001354276.2:c.4442C>A NP_001341205.1:p.Ala1481Asp
NM_001354277.2:c.4244C>A NP_001341206.1:p.Ala1415Asp
NM_001354278.2:c.2156C>A NP_001341207.1:p.Ala719Asp
NM_001354279.2:c.2192C>A NP_001341208.1:p.Ala731Asp
NM_001354280.2:c.2177C>A NP_001341209.1:p.Ala726Asp
NM_001354281.2:c.2156C>A NP_001341210.1:p.Ala719Asp
NM_001354282.2:c.2192C>A NP_001341211.1:p.Ala731Asp
NM_001386142.1:c.10649C>A NP_001373071.1:p.Ala3550Asp
NM_001386143.1:c.4565C>A NP_001373072.1:p.Ala1522Asp
NM_001386144.1:c.4673C>A NP_001373073.1:p.Ala1558Asp
NM_001386146.1:c.4409C>A NP_001373075.1:p.Ala1470Asp
NM_001386147.1:c.4454C>A NP_001373076.1:p.Ala1485Asp
NM_001386148.2:c.4613C>A NP_001373077.1:p.Ala1538Asp
NM_001386149.1:c.4409C>A NP_001373078.1:p.Ala1470Asp
NM_001386150.1:c.4409C>A NP_001373079.1:p.Ala1470Asp
NM_001386151.1:c.4343C>A NP_001373080.1:p.Ala1448Asp
NM_001386152.1:c.4685C>A NP_001373081.1:p.Ala1562Asp
NM_001386153.1:c.4409C>A NP_001373082.1:p.Ala1470Asp
NM_001386154.1:c.4394C>A NP_001373083.1:p.Ala1465Asp
NM_001386156.1:c.4367C>A NP_001373085.1:p.Ala1456Asp
NM_001386157.1:c.4244C>A NP_001373086.1:p.Ala1415Asp
NM_001386158.1:c.4145C>A NP_001373087.1:p.Ala1382Asp
NM_001386160.1:c.4472C>A NP_001373089.1:p.Ala1491Asp
NM_001386161.1:c.4562C>A NP_001373090.1:p.Ala1521Asp
NM_001386162.1:c.4442C>A NP_001373091.1:p.Ala1481Asp
NM_001386166.1:c.7283C>A NP_001373095.1:p.Ala2428Asp
NM_001386167.1:c.1028C>A NP_001373096.1:p.Ala343Asp
NM_001386174.1:c.11024C>A NP_001373103.1:p.Ala3675Asp
NM_001386175.1:c.11000C>A NP_001373104.1:p.Ala3667Asp
NM_001386186.2:c.4613C>A NP_001373115.1:p.Ala1538Asp
NM_001386187.2:c.4493C>A NP_001373116.1:p.Ala1498Asp
NM_020977.5:c.4628C>A NP_066187.2:p.Ala1543Asp