Canonical Allele Identifier: CA103827119
Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2585794
ClinVar RCV Id: RCV003338980
dbSNP Id: rs930152524

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.113373296A>C , CM000666.2:g.113373296A>C GRCh38
NC_000004.11:g.114294452A>C , CM000666.1:g.114294452A>C GRCh37
NC_000004.10:g.114513901A>C NCBI36
NG_009006.2:g.560214A>C , LRG_327:g.560214A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000506344.6:c.11940A>C ENSP00000422888.2:p.Lys3980Asn
ENST00000705785.1:c.5532A>C ENSP00000516169.1:p.Lys1844Asn
ENST00000510275.8:c.2037+3491A>C ENSP00000421023.4:n.2037+3491A>C
ENST00000612754.2:c.2631A>C ENSP00000482888.2:p.Lys877Asn
ENST00000681990.1:n.3088A>C
ENST00000682049.1:n.2296A>C
ENST00000682959.1:n.6324A>C
ENST00000683389.1:n.1869A>C
ENST00000683777.1:n.2509A>C
ENST00000683826.1:n.3735+3491A>C
ENST00000683893.1:n.1812A>C
ENST00000683908.1:n.2205A>C
ENST00000683972.1:n.8551A>C
ENST00000684225.1:n.3177A>C
ENST00000684230.1:n.3472+123A>C
ENST00000684378.1:n.4445A>C
ENST00000684470.1:n.3688A>C
ENST00000684730.1:n.5094A>C
ENST00000357077.9:c.11706A>C MANE Select ENSP00000349588.4:p.Lys3902Asn
ENST00000503423.6:c.11544A>C ENSP00000421011.2:p.Lys3848Asn
ENST00000505342.6:c.2838A>C ENSP00000422498.2:p.Lys946Asn
ENST00000510275.7:c.1254A>C ENSP00000421023.3:p.Lys418Asn
ENST00000671704.1:c.5265A>C ENSP00000500926.1:p.Lys1755Asn
ENST00000671727.1:c.5445A>C ENSP00000500102.1:p.Lys1815Asn
ENST00000671756.1:c.5277+123A>C ENSP00000500712.1:n.5277+123A>C
ENST00000671762.1:c.5580A>C ENSP00000500954.1:p.Lys1860Asn
ENST00000671793.1:c.5481A>C ENSP00000499928.1:p.Lys1827Asn
ENST00000671809.1:c.11580A>C ENSP00000500872.1:p.Lys3860Asn
ENST00000671825.1:c.5388A>C ENSP00000500459.1:p.Lys1796Asn
ENST00000671854.1:c.5190A>C ENSP00000500833.1:p.Lys1730Asn
ENST00000671863.1:c.*944A>C ENSP00000500855.1:n.*944A>C
ENST00000671882.1:c.11428-1468A>C ENSP00000499887.1:n.11428-1468A>C
ENST00000671893.1:c.5055+123A>C ENSP00000499986.1:n.5055+123A>C
ENST00000671906.1:c.11520A>C ENSP00000499953.1:p.Lys3840Asn
ENST00000671951.1:c.5166A>C ENSP00000500528.1:p.Lys1722Asn
ENST00000671971.1:c.11751A>C ENSP00000499832.1:p.Lys3917Asn
ENST00000672045.1:c.5289A>C ENSP00000499959.1:p.Lys1763Asn
ENST00000672068.1:c.11637A>C ENSP00000499902.1:p.Lys3879Asn
ENST00000672088.1:c.5265A>C ENSP00000499837.1:p.Lys1755Asn
ENST00000672090.1:c.11544A>C ENSP00000500540.1:p.Lys3848Asn
ENST00000672177.1:c.5301A>C ENSP00000500918.1:p.Lys1767Asn
ENST00000672209.1:c.11637A>C ENSP00000499982.1:p.Lys3879Asn
ENST00000672221.1:c.5286A>C ENSP00000500473.1:p.Lys1762Asn
ENST00000672240.1:c.11787A>C ENSP00000500548.1:p.Lys3929Asn
ENST00000672246.1:c.5262+123A>C ENSP00000499990.1:n.5262+123A>C
ENST00000672251.1:c.11508A>C ENSP00000500580.1:p.Lys3836Asn
ENST00000672312.1:c.5289A>C ENSP00000500378.1:p.Lys1763Asn
ENST00000672315.1:c.5292+3491A>C ENSP00000500780.1:n.5292+3491A>C
ENST00000672350.1:c.5226A>C ENSP00000500420.1:p.Lys1742Asn
ENST00000672356.1:c.5166A>C ENSP00000500544.1:p.Lys1722Asn
ENST00000672362.1:c.5517A>C ENSP00000500522.1:p.Lys1839Asn
ENST00000672366.1:c.5352A>C ENSP00000500937.1:p.Lys1784Asn
ENST00000672402.1:c.5481A>C ENSP00000500881.1:p.Lys1827Asn
ENST00000672411.1:c.3003+123A>C ENSP00000499979.1:n.3003+123A>C
ENST00000672502.1:c.11607A>C ENSP00000499870.1:p.Lys3869Asn
ENST00000672684.1:c.5190A>C ENSP00000499943.1:p.Lys1730Asn
ENST00000672696.1:c.5469+123A>C ENSP00000499828.1:n.5469+123A>C
ENST00000672731.1:c.5253+123A>C ENSP00000500908.1:n.5253+123A>C
ENST00000672759.1:c.5166A>C ENSP00000499881.1:p.Lys1722Asn
ENST00000672779.1:c.5496A>C ENSP00000499869.1:p.Lys1832Asn
ENST00000672793.1:c.5382A>C ENSP00000500150.1:p.Lys1794Asn
ENST00000672830.1:c.11643A>C ENSP00000500222.1:p.Lys3881Asn
ENST00000672854.1:c.5253A>C ENSP00000500311.1:p.Lys1751Asn
ENST00000672880.1:c.5289A>C ENSP00000500866.1:p.Lys1763Asn
ENST00000672915.1:c.2838A>C ENSP00000500622.1:p.Lys946Asn
ENST00000672930.1:c.11532+123A>C ENSP00000499913.1:n.11532+123A>C
ENST00000672934.1:c.11445A>C ENSP00000500645.1:p.Lys3815Asn
ENST00000672955.1:c.5265A>C ENSP00000500527.1:p.Lys1755Asn
ENST00000672965.1:c.5325A>C ENSP00000499891.1:p.Lys1775Asn
ENST00000672986.1:c.4869A>C ENSP00000499967.1:p.Lys1623Asn
ENST00000672990.1:c.5325A>C ENSP00000500275.1:p.Lys1775Asn
ENST00000673044.1:c.5292+3491A>C ENSP00000500933.1:n.5292+3491A>C
ENST00000673048.1:c.3000A>C ENSP00000500832.1:p.Lys1000Asn
ENST00000673109.1:c.11421A>C ENSP00000500265.1:p.Lys3807Asn
ENST00000673231.1:c.3015A>C ENSP00000500111.1:p.Lys1005Asn
ENST00000673240.1:c.5496A>C ENSP00000499996.1:p.Lys1832Asn
ENST00000673255.1:c.5289A>C ENSP00000500423.1:p.Lys1763Asn
ENST00000673298.1:c.11544A>C ENSP00000500245.1:p.Lys3848Asn
ENST00000673334.1:c.11448+3491A>C ENSP00000500854.1:n.11448+3491A>C
ENST00000673353.1:c.2979A>C ENSP00000500007.1:p.Lys993Asn
ENST00000673363.1:c.11652A>C ENSP00000500539.1:p.Lys3884Asn
ENST00000673430.1:c.5382A>C ENSP00000500269.1:p.Lys1794Asn
ENST00000673453.1:c.5298+123A>C ENSP00000500112.1:n.5298+123A>C
ENST00000673536.1:c.4959A>C ENSP00000500524.1:p.Lys1653Asn
ENST00000673538.1:c.*944A>C ENSP00000500842.1:n.*944A>C
ENST00000673546.1:c.5226A>C ENSP00000500843.1:p.Lys1742Asn
ENST00000673555.1:c.11625+123A>C ENSP00000500947.1:n.11625+123A>C
ENST00000673573.1:c.11481A>C ENSP00000500883.1:p.Lys3827Asn
ENST00000264366.10:c.11607A>C ENSP00000264366.6:p.Lys3869Asn
ENST00000357077.8:c.11706A>C ENSP00000349588.4:p.Lys3902Asn
ENST00000394537.7:c.5451A>C ENSP00000378044.3:p.Lys1817Asn
ENST00000505342.5:c.2736A>C ENSP00000422498.1:p.Lys912Asn
ENST00000506722.5:c.5424A>C ENSP00000421067.1:p.Lys1808Asn
ENST00000509550.5:c.2979A>C ENSP00000426944.1:p.Lys993Asn
ENST00000510275.6:c.1500A>C ENSP00000421023.2:p.Lys500Asn
ENST00000514960.5:c.2548A>C
ENST00000612754.1:c.*3067A>C ENSP00000482888.1:n.*3067A>C
NM_001127493.1:c.5424A>C , LRG_327t2:c.5424A>C NP_001120965.1:p.Lys1808Asn
NM_001148.4:c.11706A>C , LRG_327t1:c.11706A>C NP_001139.3:p.Lys3902Asn
NM_020977.3:c.5451A>C NP_066187.2:p.Lys1817Asn
XM_005262942.3:c.11832A>C XP_005262999.1:p.Lys3944Asn
XM_005262945.1:c.11607A>C XP_005263002.1:p.Lys3869Asn
XM_005262948.3:c.5448A>C XP_005263005.1:p.Lys1816Asn
XM_006714188.2:c.11886A>C XP_006714251.1:p.Lys3962Asn
XM_006714189.2:c.11850A>C XP_006714252.1:p.Lys3950Asn
XM_006714190.2:c.5598A>C XP_006714253.1:p.Lys1866Asn
XM_006714191.2:c.5538A>C XP_006714254.1:p.Lys1846Asn
XM_006714192.2:c.5562A>C XP_006714255.1:p.Lys1854Asn
XM_006714193.2:c.5538A>C XP_006714256.1:p.Lys1846Asn
XM_006714194.2:c.11826A>C XP_006714257.1:p.Lys3942Asn
XM_011531891.1:c.11871A>C XP_011530193.1:p.Lys3957Asn
NM_001127493.2:c.5424A>C NP_001120965.1:p.Lys1808Asn
NM_001148.5:c.11706A>C NP_001139.3:p.Lys3902Asn
NM_001354225.1:c.5463A>C NP_001341154.1:p.Lys1821Asn
NM_001354228.1:c.5445A>C NP_001341157.1:p.Lys1815Asn
NM_001354230.1:c.5430A>C NP_001341159.1:p.Lys1810Asn
NM_001354231.1:c.5586A>C NP_001341160.1:p.Lys1862Asn
NM_001354232.1:c.5580A>C NP_001341161.1:p.Lys1860Asn
NM_001354235.1:c.5541A>C NP_001341164.1:p.Lys1847Asn
NM_001354236.1:c.5349A>C NP_001341165.1:p.Lys1783Asn
NM_001354237.1:c.5529A>C NP_001341166.1:p.Lys1843Asn
NM_001354239.1:c.5514A>C NP_001341168.1:p.Lys1838Asn
NM_001354240.1:c.5496A>C NP_001341169.1:p.Lys1832Asn
NM_001354241.1:c.5496A>C NP_001341170.1:p.Lys1832Asn
NM_001354242.1:c.5493A>C NP_001341171.1:p.Lys1831Asn
NM_001354243.1:c.5481A>C NP_001341172.1:p.Lys1827Asn
NM_001354244.1:c.5478A>C NP_001341173.1:p.Lys1826Asn
NM_001354245.1:c.5289A>C NP_001341174.1:p.Lys1763Asn
NM_001354246.1:c.5448A>C NP_001341175.1:p.Lys1816Asn
NM_001354249.1:c.5265A>C NP_001341178.1:p.Lys1755Asn
NM_001354252.1:c.5421A>C NP_001341181.1:p.Lys1807Asn
NM_001354253.1:c.5226A>C NP_001341182.1:p.Lys1742Asn
NM_001354254.1:c.5400A>C NP_001341183.1:p.Lys1800Asn
NM_001354255.1:c.5388A>C NP_001341184.1:p.Lys1796Asn
NM_001354256.1:c.5385A>C NP_001341185.1:p.Lys1795Asn
NM_001354257.1:c.5190A>C NP_001341186.1:p.Lys1730Asn
NM_001354258.1:c.5352A>C NP_001341187.1:p.Lys1784Asn
NM_001354260.1:c.5166A>C NP_001341189.1:p.Lys1722Asn
NM_001354261.1:c.5310A>C NP_001341190.1:p.Lys1770Asn
NM_001354262.1:c.5289A>C NP_001341191.1:p.Lys1763Asn
NM_001354264.1:c.5286A>C NP_001341193.1:p.Lys1762Asn
NM_001354265.1:c.5436+123A>C NP_001341194.1:n.5436+123A>C
NM_001354266.1:c.5265A>C NP_001341195.1:p.Lys1755Asn
NM_001354267.1:c.5265A>C NP_001341196.1:p.Lys1755Asn
NM_001354268.1:c.5253A>C NP_001341197.1:p.Lys1751Asn
NM_001354269.1:c.5238A>C NP_001341198.1:p.Lys1746Asn
NM_001354270.1:c.5226A>C NP_001341199.1:p.Lys1742Asn
NM_001354271.1:c.5166A>C NP_001341200.1:p.Lys1722Asn
NM_001354272.1:c.5310+123A>C NP_001341201.1:n.5310+123A>C
NM_001354273.1:c.5151A>C NP_001341202.1:p.Lys1717Asn
NM_001354274.1:c.5298+123A>C NP_001341203.1:n.5298+123A>C
NM_001354275.1:c.5277+123A>C NP_001341204.1:n.5277+123A>C
NM_001354276.1:c.5253+123A>C NP_001341205.1:n.5253+123A>C
NM_001354277.1:c.5055+123A>C NP_001341206.1:n.5055+123A>C
NM_001354278.1:c.2979A>C NP_001341207.1:p.Lys993Asn
NM_001354279.1:c.3015A>C NP_001341208.1:p.Lys1005Asn
NM_001354280.1:c.3000A>C NP_001341209.1:p.Lys1000Asn
NM_001354281.1:c.2979A>C NP_001341210.1:p.Lys993Asn
NM_001354282.1:c.3003+123A>C NP_001341211.1:n.3003+123A>C
NM_020977.4:c.5451A>C NP_066187.2:p.Lys1817Asn
XM_005262945.3:c.11607A>C XP_005263002.1:p.Lys3869Asn
XM_017008067.1:c.11940A>C XP_016863556.1:p.Lys3980Asn
XM_017008069.1:c.11916A>C XP_016863558.1:p.Lys3972Asn
XM_017008071.2:c.11826A>C XP_016863560.1:p.Lys3942Asn
XM_017008072.2:c.11802A>C XP_016863561.1:p.Lys3934Asn
XM_017008073.2:c.11799A>C XP_016863562.1:p.Lys3933Asn
XM_017008074.2:c.11772A>C XP_016863563.1:p.Lys3924Asn
XM_017008075.2:c.11736A>C XP_016863564.1:p.Lys3912Asn
XM_017008076.2:c.11706A>C XP_016863565.1:p.Lys3902Asn
XM_017008077.2:c.11613A>C XP_016863566.1:p.Lys3871Asn
XM_017008078.2:c.5451A>C XP_016863567.1:p.Lys1817Asn
XM_017008080.2:c.5301A>C XP_016863569.1:p.Lys1767Asn
XM_024454016.1:c.11835A>C XP_024309784.1:p.Lys3945Asn
XM_024454017.1:c.5580A>C XP_024309785.1:p.Lys1860Asn
XM_024454018.1:c.5445A>C XP_024309786.1:p.Lys1815Asn
XM_024454019.1:c.5430A>C XP_024309787.1:p.Lys1810Asn
XM_024454020.1:c.5352A>C XP_024309788.1:p.Lys1784Asn
XM_024454021.1:c.5349A>C XP_024309789.1:p.Lys1783Asn
XM_024454022.1:c.5289A>C XP_024309790.1:p.Lys1763Asn
XM_024454023.1:c.5151A>C XP_024309791.1:p.Lys1717Asn
NM_001148.6:c.11706A>C MANE Select NP_001139.3:p.Lys3902Asn
NM_001127493.3:c.5424A>C NP_001120965.1:p.Lys1808Asn
NM_001354225.2:c.5463A>C NP_001341154.1:p.Lys1821Asn
NM_001354228.2:c.5445A>C NP_001341157.1:p.Lys1815Asn
NM_001354230.2:c.5430A>C NP_001341159.1:p.Lys1810Asn
NM_001354231.2:c.5586A>C NP_001341160.1:p.Lys1862Asn
NM_001354232.2:c.5580A>C NP_001341161.1:p.Lys1860Asn
NM_001354235.2:c.5541A>C NP_001341164.1:p.Lys1847Asn
NM_001354236.2:c.5349A>C NP_001341165.1:p.Lys1783Asn
NM_001354237.2:c.5529A>C NP_001341166.1:p.Lys1843Asn
NM_001354239.2:c.5514A>C NP_001341168.1:p.Lys1838Asn
NM_001354240.2:c.5496A>C NP_001341169.1:p.Lys1832Asn
NM_001354241.2:c.5496A>C NP_001341170.1:p.Lys1832Asn
NM_001354242.2:c.5493A>C NP_001341171.1:p.Lys1831Asn
NM_001354243.2:c.5481A>C NP_001341172.1:p.Lys1827Asn
NM_001354244.2:c.5478A>C NP_001341173.1:p.Lys1826Asn
NM_001354245.2:c.5289A>C NP_001341174.1:p.Lys1763Asn
NM_001354246.2:c.5448A>C NP_001341175.1:p.Lys1816Asn
NM_001354249.2:c.5265A>C NP_001341178.1:p.Lys1755Asn
NM_001354252.2:c.5421A>C NP_001341181.1:p.Lys1807Asn
NM_001354253.2:c.5226A>C NP_001341182.1:p.Lys1742Asn
NM_001354254.2:c.5400A>C NP_001341183.1:p.Lys1800Asn
NM_001354255.2:c.5388A>C NP_001341184.1:p.Lys1796Asn
NM_001354256.2:c.5385A>C NP_001341185.1:p.Lys1795Asn
NM_001354257.2:c.5190A>C NP_001341186.1:p.Lys1730Asn
NM_001354258.2:c.5352A>C NP_001341187.1:p.Lys1784Asn
NM_001354260.2:c.5166A>C NP_001341189.1:p.Lys1722Asn
NM_001354261.2:c.5310A>C NP_001341190.1:p.Lys1770Asn
NM_001354262.2:c.5289A>C NP_001341191.1:p.Lys1763Asn
NM_001354264.2:c.5286A>C NP_001341193.1:p.Lys1762Asn
NM_001354265.2:c.5436+123A>C NP_001341194.1:n.5436+123A>C
NM_001354266.2:c.5265A>C NP_001341195.1:p.Lys1755Asn
NM_001354267.2:c.5265A>C NP_001341196.1:p.Lys1755Asn
NM_001354268.2:c.5253A>C NP_001341197.1:p.Lys1751Asn
NM_001354269.3:c.5238A>C NP_001341198.1:p.Lys1746Asn
NM_001354270.2:c.5226A>C NP_001341199.1:p.Lys1742Asn
NM_001354271.2:c.5166A>C NP_001341200.1:p.Lys1722Asn
NM_001354272.2:c.5310+123A>C NP_001341201.1:n.5310+123A>C
NM_001354273.2:c.5151A>C NP_001341202.1:p.Lys1717Asn
NM_001354274.2:c.5298+123A>C NP_001341203.1:n.5298+123A>C
NM_001354275.2:c.5277+123A>C NP_001341204.1:n.5277+123A>C
NM_001354276.2:c.5253+123A>C NP_001341205.1:n.5253+123A>C
NM_001354277.2:c.5055+123A>C NP_001341206.1:n.5055+123A>C
NM_001354278.2:c.2979A>C NP_001341207.1:p.Lys993Asn
NM_001354279.2:c.3015A>C NP_001341208.1:p.Lys1005Asn
NM_001354280.2:c.3000A>C NP_001341209.1:p.Lys1000Asn
NM_001354281.2:c.2979A>C NP_001341210.1:p.Lys993Asn
NM_001354282.2:c.3003+123A>C NP_001341211.1:n.3003+123A>C
NM_001386142.1:c.11472A>C NP_001373071.1:p.Lys3824Asn
NM_001386143.1:c.5481A>C NP_001373072.1:p.Lys1827Asn
NM_001386144.1:c.5589A>C NP_001373073.1:p.Lys1863Asn
NM_001386146.1:c.5325A>C NP_001373075.1:p.Lys1775Asn
NM_001386147.1:c.5277A>C NP_001373076.1:p.Lys1759Asn
NM_001386148.2:c.5436A>C NP_001373077.1:p.Lys1812Asn
NM_001386149.1:c.5232A>C NP_001373078.1:p.Lys1744Asn
NM_001386150.1:c.5325A>C NP_001373079.1:p.Lys1775Asn
NM_001386151.1:c.5259A>C NP_001373080.1:p.Lys1753Asn
NM_001386152.1:c.5412+3491A>C NP_001373081.1:n.5412+3491A>C
NM_001386153.1:c.5232A>C NP_001373082.1:p.Lys1744Asn
NM_001386154.1:c.5217A>C NP_001373083.1:p.Lys1739Asn
NM_001386156.1:c.5190A>C NP_001373085.1:p.Lys1730Asn
NM_001386157.1:c.5067A>C NP_001373086.1:p.Lys1689Asn
NM_001386158.1:c.4968A>C NP_001373087.1:p.Lys1656Asn
NM_001386160.1:c.5295A>C NP_001373089.1:p.Lys1765Asn
NM_001386161.1:c.5385A>C NP_001373090.1:p.Lys1795Asn
NM_001386162.1:c.5253+123A>C NP_001373091.1:n.5253+123A>C
NM_001386166.1:c.8106A>C NP_001373095.1:p.Lys2702Asn
NM_001386167.1:c.1944A>C NP_001373096.1:p.Lys648Asn
NM_001386174.1:c.11940A>C NP_001373103.1:p.Lys3980Asn
NM_001386175.1:c.11916A>C NP_001373104.1:p.Lys3972Asn
NM_001386186.2:c.5436A>C NP_001373115.1:p.Lys1812Asn
NM_001386187.2:c.5316A>C NP_001373116.1:p.Lys1772Asn
NM_020977.5:c.5451A>C NP_066187.2:p.Lys1817Asn