Canonical Allele Identifier: CA3052249

Gene: ANK2

Linked Data

• ClinVar Variation Id: 1798549
• ClinVar RCV Id: RCV002435520
• dbSNP Id: rs758624781
• ExAC: 4:114288931 C / A
• gnomAD v2: 4-114288931-C-A
• gnomAD v4: 4-113367775-C-A
• MyVariant Identifiers: chr4:g.114288931C>A (hg19) ; chr4:g.113367775C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.113367775C>A , CM000666.2:g.113367775C>A	GRCh38
NC_000004.11:g.114288931C>A , CM000666.1:g.114288931C>A	GRCh37
NC_000004.10:g.114508380C>A	NCBI36
NG_009006.2:g.554693C>A , LRG_327:g.554693C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000506344.6:c.11383C>A	ENSP00000422888.2:p.Gln3795Lys
ENST00000705785.1:c.5068C>A	ENSP00000516169.1:p.Gln1690Lys
ENST00000510275.8:c.1669C>A	ENSP00000421023.4:p.Gln557Lys
ENST00000612754.2:c.2167C>A	ENSP00000482888.2:p.Gln723Lys
ENST00000681990.1:n.2624C>A
ENST00000682049.1:n.1832C>A
ENST00000682959.1:n.2576C>A
ENST00000683389.1:n.1405C>A
ENST00000683826.1:n.3367C>A
ENST00000683893.1:n.1348C>A
ENST00000683908.1:n.1741C>A
ENST00000683972.1:n.8087C>A
ENST00000684225.1:n.2713C>A
ENST00000684378.1:n.697C>A
ENST00000684470.1:n.3131C>A
ENST00000684730.1:n.1346C>A
ENST00000357077.9:c.11242C>A MANE Select	ENSP00000349588.4:p.Gln3748Lys
ENST00000503423.6:c.11080C>A	ENSP00000421011.2:p.Gln3694Lys
ENST00000505342.6:c.2374C>A	ENSP00000422498.2:p.Gln792Lys
ENST00000510275.7:c.697C>A	ENSP00000421023.3:p.Gln233Lys
ENST00000671704.1:c.4801C>A	ENSP00000500926.1:p.Gln1601Lys
ENST00000671727.1:c.4888C>A	ENSP00000500102.1:p.Gln1630Lys
ENST00000671756.1:c.4825C>A	ENSP00000500712.1:p.Gln1609Lys
ENST00000671762.1:c.5023C>A	ENSP00000500954.1:p.Gln1675Lys
ENST00000671793.1:c.4924C>A	ENSP00000499928.1:p.Gln1642Lys
ENST00000671809.1:c.11116C>A	ENSP00000500872.1:p.Gln3706Lys
ENST00000671825.1:c.4924C>A	ENSP00000500459.1:p.Gln1642Lys
ENST00000671854.1:c.4726C>A	ENSP00000500833.1:p.Gln1576Lys
ENST00000671863.1:c.*480C>A	ENSP00000500855.1:n.*480C>A
ENST00000671882.1:c.11059C>A	ENSP00000499887.1:p.Gln3687Lys
ENST00000671893.1:c.4603C>A	ENSP00000499986.1:p.Gln1535Lys
ENST00000671906.1:c.11056C>A	ENSP00000499953.1:p.Gln3686Lys
ENST00000671951.1:c.4702C>A	ENSP00000500528.1:p.Gln1568Lys
ENST00000671971.1:c.11287C>A	ENSP00000499832.1:p.Gln3763Lys
ENST00000672045.1:c.4825C>A	ENSP00000499959.1:p.Gln1609Lys
ENST00000672068.1:c.11080C>A	ENSP00000499902.1:p.Gln3694Lys
ENST00000672088.1:c.4801C>A	ENSP00000499837.1:p.Gln1601Lys
ENST00000672090.1:c.11080C>A	ENSP00000500540.1:p.Gln3694Lys
ENST00000672177.1:c.4837C>A	ENSP00000500918.1:p.Gln1613Lys
ENST00000672209.1:c.11080C>A	ENSP00000499982.1:p.Gln3694Lys
ENST00000672221.1:c.4822C>A	ENSP00000500473.1:p.Gln1608Lys
ENST00000672240.1:c.11323C>A	ENSP00000500548.1:p.Gln3775Lys
ENST00000672246.1:c.4810C>A	ENSP00000499990.1:p.Gln1604Lys
ENST00000672251.1:c.11044C>A	ENSP00000500580.1:p.Gln3682Lys
ENST00000672312.1:c.4825C>A	ENSP00000500378.1:p.Gln1609Lys
ENST00000672315.1:c.4924C>A	ENSP00000500780.1:p.Gln1642Lys
ENST00000672350.1:c.4762C>A	ENSP00000500420.1:p.Gln1588Lys
ENST00000672356.1:c.4702C>A	ENSP00000500544.1:p.Gln1568Lys
ENST00000672362.1:c.4960C>A	ENSP00000500522.1:p.Gln1654Lys
ENST00000672366.1:c.4888C>A	ENSP00000500937.1:p.Gln1630Lys
ENST00000672402.1:c.4924C>A	ENSP00000500881.1:p.Gln1642Lys
ENST00000672411.1:c.2551C>A	ENSP00000499979.1:p.Gln851Lys
ENST00000672502.1:c.11143C>A	ENSP00000499870.1:p.Gln3715Lys
ENST00000672684.1:c.4726C>A	ENSP00000499943.1:p.Gln1576Lys
ENST00000672696.1:c.4924C>A	ENSP00000499828.1:p.Gln1642Lys
ENST00000672731.1:c.4801C>A	ENSP00000500908.1:p.Gln1601Lys
ENST00000672759.1:c.4702C>A	ENSP00000499881.1:p.Gln1568Lys
ENST00000672779.1:c.5032C>A	ENSP00000499869.1:p.Gln1678Lys
ENST00000672793.1:c.4825C>A	ENSP00000500150.1:p.Gln1609Lys
ENST00000672830.1:c.11179C>A	ENSP00000500222.1:p.Gln3727Lys
ENST00000672854.1:c.4789C>A	ENSP00000500311.1:p.Gln1597Lys
ENST00000672880.1:c.4825C>A	ENSP00000500866.1:p.Gln1609Lys
ENST00000672915.1:c.2374C>A	ENSP00000500622.1:p.Gln792Lys
ENST00000672930.1:c.11080C>A	ENSP00000499913.1:p.Gln3694Lys
ENST00000672934.1:c.10981C>A	ENSP00000500645.1:p.Gln3661Lys
ENST00000672955.1:c.4801C>A	ENSP00000500527.1:p.Gln1601Lys
ENST00000672965.1:c.4861C>A	ENSP00000499891.1:p.Gln1621Lys
ENST00000672986.1:c.4405C>A	ENSP00000499967.1:p.Gln1469Lys
ENST00000672990.1:c.4861C>A	ENSP00000500275.1:p.Gln1621Lys
ENST00000673044.1:c.4924C>A	ENSP00000500933.1:p.Gln1642Lys
ENST00000673048.1:c.2536C>A	ENSP00000500832.1:p.Gln846Lys
ENST00000673109.1:c.10957C>A	ENSP00000500265.1:p.Gln3653Lys
ENST00000673231.1:c.2551C>A	ENSP00000500111.1:p.Gln851Lys
ENST00000673240.1:c.5032C>A	ENSP00000499996.1:p.Gln1678Lys
ENST00000673255.1:c.4825C>A	ENSP00000500423.1:p.Gln1609Lys
ENST00000673298.1:c.11080C>A	ENSP00000500245.1:p.Gln3694Lys
ENST00000673334.1:c.11080C>A	ENSP00000500854.1:p.Gln3694Lys
ENST00000673353.1:c.2515C>A	ENSP00000500007.1:p.Gln839Lys
ENST00000673363.1:c.11188C>A	ENSP00000500539.1:p.Gln3730Lys
ENST00000673430.1:c.4825C>A	ENSP00000500269.1:p.Gln1609Lys
ENST00000673453.1:c.4753C>A	ENSP00000500112.1:p.Gln1585Lys
ENST00000673536.1:c.4495C>A	ENSP00000500524.1:p.Gln1499Lys
ENST00000673538.1:c.*480C>A	ENSP00000500842.1:n.*480C>A
ENST00000673546.1:c.4762C>A	ENSP00000500843.1:p.Gln1588Lys
ENST00000673555.1:c.11080C>A	ENSP00000500947.1:p.Gln3694Lys
ENST00000673573.1:c.11017C>A	ENSP00000500883.1:p.Gln3673Lys
ENST00000264366.10:c.11143C>A	ENSP00000264366.6:p.Gln3715Lys
ENST00000357077.8:c.11242C>A	ENSP00000349588.4:p.Gln3748Lys
ENST00000394537.7:c.4987C>A	ENSP00000378044.3:p.Gln1663Lys
ENST00000505342.5:c.2272C>A	ENSP00000422498.1:p.Gln758Lys
ENST00000506722.5:c.4960C>A	ENSP00000421067.1:p.Gln1654Lys
ENST00000509550.5:c.2515C>A	ENSP00000426944.1:p.Gln839Lys
ENST00000510275.6:c.943C>A	ENSP00000421023.2:p.Gln315Lys
ENST00000514960.5:c.1991C>A
ENST00000612754.1:c.*2603C>A	ENSP00000482888.1:n.*2603C>A
NM_001127493.1:c.4960C>A , LRG_327t2:c.4960C>A	NP_001120965.1:p.Gln1654Lys
NM_001148.4:c.11242C>A , LRG_327t1:c.11242C>A	NP_001139.3:p.Gln3748Lys
NM_020977.3:c.4987C>A	NP_066187.2:p.Gln1663Lys
XM_005262942.3:c.11275C>A	XP_005262999.1:p.Gln3759Lys
XM_005262945.1:c.11143C>A	XP_005263002.1:p.Gln3715Lys
XM_005262948.3:c.4984C>A	XP_005263005.1:p.Gln1662Lys
XM_006714188.2:c.11329C>A	XP_006714251.1:p.Gln3777Lys
XM_006714189.2:c.11293C>A	XP_006714252.1:p.Gln3765Lys
XM_006714190.2:c.5041C>A	XP_006714253.1:p.Gln1681Lys
XM_006714191.2:c.5074C>A	XP_006714254.1:p.Gln1692Lys
XM_006714192.2:c.5005C>A	XP_006714255.1:p.Gln1669Lys
XM_006714193.2:c.5074C>A	XP_006714256.1:p.Gln1692Lys
XM_006714194.2:c.11269C>A	XP_006714257.1:p.Gln3757Lys
XM_011531891.1:c.11314C>A	XP_011530193.1:p.Gln3772Lys
NM_001127493.2:c.4960C>A	NP_001120965.1:p.Gln1654Lys
NM_001148.5:c.11242C>A	NP_001139.3:p.Gln3748Lys
NM_001354225.1:c.4999C>A	NP_001341154.1:p.Gln1667Lys
NM_001354228.1:c.4888C>A	NP_001341157.1:p.Gln1630Lys
NM_001354230.1:c.4966C>A	NP_001341159.1:p.Gln1656Lys
NM_001354231.1:c.5029C>A	NP_001341160.1:p.Gln1677Lys
NM_001354232.1:c.5023C>A	NP_001341161.1:p.Gln1675Lys
NM_001354235.1:c.4984C>A	NP_001341164.1:p.Gln1662Lys
NM_001354236.1:c.4885C>A	NP_001341165.1:p.Gln1629Lys
NM_001354237.1:c.5065C>A	NP_001341166.1:p.Gln1689Lys
NM_001354239.1:c.4957C>A	NP_001341168.1:p.Gln1653Lys
NM_001354240.1:c.5032C>A	NP_001341169.1:p.Gln1678Lys
NM_001354241.1:c.5032C>A	NP_001341170.1:p.Gln1678Lys
NM_001354242.1:c.5029C>A	NP_001341171.1:p.Gln1677Lys
NM_001354243.1:c.4924C>A	NP_001341172.1:p.Gln1642Lys
NM_001354244.1:c.4921C>A	NP_001341173.1:p.Gln1641Lys
NM_001354245.1:c.4825C>A	NP_001341174.1:p.Gln1609Lys
NM_001354246.1:c.4984C>A	NP_001341175.1:p.Gln1662Lys
NM_001354249.1:c.4801C>A	NP_001341178.1:p.Gln1601Lys
NM_001354252.1:c.4957C>A	NP_001341181.1:p.Gln1653Lys
NM_001354253.1:c.4762C>A	NP_001341182.1:p.Gln1588Lys
NM_001354254.1:c.4936C>A	NP_001341183.1:p.Gln1646Lys
NM_001354255.1:c.4924C>A	NP_001341184.1:p.Gln1642Lys
NM_001354256.1:c.4921C>A	NP_001341185.1:p.Gln1641Lys
NM_001354257.1:c.4726C>A	NP_001341186.1:p.Gln1576Lys
NM_001354258.1:c.4888C>A	NP_001341187.1:p.Gln1630Lys
NM_001354260.1:c.4702C>A	NP_001341189.1:p.Gln1568Lys
NM_001354261.1:c.4846C>A	NP_001341190.1:p.Gln1616Lys
NM_001354262.1:c.4825C>A	NP_001341191.1:p.Gln1609Lys
NM_001354264.1:c.4822C>A	NP_001341193.1:p.Gln1608Lys
NM_001354265.1:c.4984C>A	NP_001341194.1:p.Gln1662Lys
NM_001354266.1:c.4801C>A	NP_001341195.1:p.Gln1601Lys
NM_001354267.1:c.4801C>A	NP_001341196.1:p.Gln1601Lys
NM_001354268.1:c.4789C>A	NP_001341197.1:p.Gln1597Lys
NM_001354269.1:c.4774C>A	NP_001341198.1:p.Gln1592Lys
NM_001354270.1:c.4762C>A	NP_001341199.1:p.Gln1588Lys
NM_001354271.1:c.4702C>A	NP_001341200.1:p.Gln1568Lys
NM_001354272.1:c.4858C>A	NP_001341201.1:p.Gln1620Lys
NM_001354273.1:c.4687C>A	NP_001341202.1:p.Gln1563Lys
NM_001354274.1:c.4753C>A	NP_001341203.1:p.Gln1585Lys
NM_001354275.1:c.4825C>A	NP_001341204.1:p.Gln1609Lys
NM_001354276.1:c.4801C>A	NP_001341205.1:p.Gln1601Lys
NM_001354277.1:c.4603C>A	NP_001341206.1:p.Gln1535Lys
NM_001354278.1:c.2515C>A	NP_001341207.1:p.Gln839Lys
NM_001354279.1:c.2551C>A	NP_001341208.1:p.Gln851Lys
NM_001354280.1:c.2536C>A	NP_001341209.1:p.Gln846Lys
NM_001354281.1:c.2515C>A	NP_001341210.1:p.Gln839Lys
NM_001354282.1:c.2551C>A	NP_001341211.1:p.Gln851Lys
NM_020977.4:c.4987C>A	NP_066187.2:p.Gln1663Lys
XM_005262945.3:c.11143C>A	XP_005263002.1:p.Gln3715Lys
XM_017008067.1:c.11383C>A	XP_016863556.1:p.Gln3795Lys
XM_017008069.1:c.11359C>A	XP_016863558.1:p.Gln3787Lys
XM_017008071.2:c.11269C>A	XP_016863560.1:p.Gln3757Lys
XM_017008072.2:c.11245C>A	XP_016863561.1:p.Gln3749Lys
XM_017008073.2:c.11242C>A	XP_016863562.1:p.Gln3748Lys
XM_017008074.2:c.11215C>A	XP_016863563.1:p.Gln3739Lys
XM_017008075.2:c.11179C>A	XP_016863564.1:p.Gln3727Lys
XM_017008076.2:c.11242C>A	XP_016863565.1:p.Gln3748Lys
XM_017008077.2:c.11056C>A	XP_016863566.1:p.Gln3686Lys
XM_017008078.2:c.4987C>A	XP_016863567.1:p.Gln1663Lys
XM_017008080.2:c.4837C>A	XP_016863569.1:p.Gln1613Lys
XM_024454016.1:c.11278C>A	XP_024309784.1:p.Gln3760Lys
XM_024454017.1:c.5023C>A	XP_024309785.1:p.Gln1675Lys
XM_024454018.1:c.4888C>A	XP_024309786.1:p.Gln1630Lys
XM_024454019.1:c.4966C>A	XP_024309787.1:p.Gln1656Lys
XM_024454020.1:c.4888C>A	XP_024309788.1:p.Gln1630Lys
XM_024454021.1:c.4885C>A	XP_024309789.1:p.Gln1629Lys
XM_024454022.1:c.4825C>A	XP_024309790.1:p.Gln1609Lys
XM_024454023.1:c.4687C>A	XP_024309791.1:p.Gln1563Lys
NM_001148.6:c.11242C>A MANE Select	NP_001139.3:p.Gln3748Lys
NM_001127493.3:c.4960C>A	NP_001120965.1:p.Gln1654Lys
NM_001354225.2:c.4999C>A	NP_001341154.1:p.Gln1667Lys
NM_001354228.2:c.4888C>A	NP_001341157.1:p.Gln1630Lys
NM_001354230.2:c.4966C>A	NP_001341159.1:p.Gln1656Lys
NM_001354231.2:c.5029C>A	NP_001341160.1:p.Gln1677Lys
NM_001354232.2:c.5023C>A	NP_001341161.1:p.Gln1675Lys
NM_001354235.2:c.4984C>A	NP_001341164.1:p.Gln1662Lys
NM_001354236.2:c.4885C>A	NP_001341165.1:p.Gln1629Lys
NM_001354237.2:c.5065C>A	NP_001341166.1:p.Gln1689Lys
NM_001354239.2:c.4957C>A	NP_001341168.1:p.Gln1653Lys
NM_001354240.2:c.5032C>A	NP_001341169.1:p.Gln1678Lys
NM_001354241.2:c.5032C>A	NP_001341170.1:p.Gln1678Lys
NM_001354242.2:c.5029C>A	NP_001341171.1:p.Gln1677Lys
NM_001354243.2:c.4924C>A	NP_001341172.1:p.Gln1642Lys
NM_001354244.2:c.4921C>A	NP_001341173.1:p.Gln1641Lys
NM_001354245.2:c.4825C>A	NP_001341174.1:p.Gln1609Lys
NM_001354246.2:c.4984C>A	NP_001341175.1:p.Gln1662Lys
NM_001354249.2:c.4801C>A	NP_001341178.1:p.Gln1601Lys
NM_001354252.2:c.4957C>A	NP_001341181.1:p.Gln1653Lys
NM_001354253.2:c.4762C>A	NP_001341182.1:p.Gln1588Lys
NM_001354254.2:c.4936C>A	NP_001341183.1:p.Gln1646Lys
NM_001354255.2:c.4924C>A	NP_001341184.1:p.Gln1642Lys
NM_001354256.2:c.4921C>A	NP_001341185.1:p.Gln1641Lys
NM_001354257.2:c.4726C>A	NP_001341186.1:p.Gln1576Lys
NM_001354258.2:c.4888C>A	NP_001341187.1:p.Gln1630Lys
NM_001354260.2:c.4702C>A	NP_001341189.1:p.Gln1568Lys
NM_001354261.2:c.4846C>A	NP_001341190.1:p.Gln1616Lys
NM_001354262.2:c.4825C>A	NP_001341191.1:p.Gln1609Lys
NM_001354264.2:c.4822C>A	NP_001341193.1:p.Gln1608Lys
NM_001354265.2:c.4984C>A	NP_001341194.1:p.Gln1662Lys
NM_001354266.2:c.4801C>A	NP_001341195.1:p.Gln1601Lys
NM_001354267.2:c.4801C>A	NP_001341196.1:p.Gln1601Lys
NM_001354268.2:c.4789C>A	NP_001341197.1:p.Gln1597Lys
NM_001354269.3:c.4774C>A	NP_001341198.1:p.Gln1592Lys
NM_001354270.2:c.4762C>A	NP_001341199.1:p.Gln1588Lys
NM_001354271.2:c.4702C>A	NP_001341200.1:p.Gln1568Lys
NM_001354272.2:c.4858C>A	NP_001341201.1:p.Gln1620Lys
NM_001354273.2:c.4687C>A	NP_001341202.1:p.Gln1563Lys
NM_001354274.2:c.4753C>A	NP_001341203.1:p.Gln1585Lys
NM_001354275.2:c.4825C>A	NP_001341204.1:p.Gln1609Lys
NM_001354276.2:c.4801C>A	NP_001341205.1:p.Gln1601Lys
NM_001354277.2:c.4603C>A	NP_001341206.1:p.Gln1535Lys
NM_001354278.2:c.2515C>A	NP_001341207.1:p.Gln839Lys
NM_001354279.2:c.2551C>A	NP_001341208.1:p.Gln851Lys
NM_001354280.2:c.2536C>A	NP_001341209.1:p.Gln846Lys
NM_001354281.2:c.2515C>A	NP_001341210.1:p.Gln839Lys
NM_001354282.2:c.2551C>A	NP_001341211.1:p.Gln851Lys
NM_001386142.1:c.11008C>A	NP_001373071.1:p.Gln3670Lys
NM_001386143.1:c.4924C>A	NP_001373072.1:p.Gln1642Lys
NM_001386144.1:c.5032C>A	NP_001373073.1:p.Gln1678Lys
NM_001386146.1:c.4768C>A	NP_001373075.1:p.Gln1590Lys
NM_001386147.1:c.4813C>A	NP_001373076.1:p.Gln1605Lys
NM_001386148.2:c.4972C>A	NP_001373077.1:p.Gln1658Lys
NM_001386149.1:c.4768C>A	NP_001373078.1:p.Gln1590Lys
NM_001386150.1:c.4768C>A	NP_001373079.1:p.Gln1590Lys
NM_001386151.1:c.4702C>A	NP_001373080.1:p.Gln1568Lys
NM_001386152.1:c.5044C>A	NP_001373081.1:p.Gln1682Lys
NM_001386153.1:c.4768C>A	NP_001373082.1:p.Gln1590Lys
NM_001386154.1:c.4753C>A	NP_001373083.1:p.Gln1585Lys
NM_001386156.1:c.4726C>A	NP_001373085.1:p.Gln1576Lys
NM_001386157.1:c.4603C>A	NP_001373086.1:p.Gln1535Lys
NM_001386158.1:c.4504C>A	NP_001373087.1:p.Gln1502Lys
NM_001386160.1:c.4831C>A	NP_001373089.1:p.Gln1611Lys
NM_001386161.1:c.4921C>A	NP_001373090.1:p.Gln1641Lys
NM_001386162.1:c.4801C>A	NP_001373091.1:p.Gln1601Lys
NM_001386166.1:c.7642C>A	NP_001373095.1:p.Gln2548Lys
NM_001386167.1:c.1387C>A	NP_001373096.1:p.Gln463Lys
NM_001386174.1:c.11383C>A	NP_001373103.1:p.Gln3795Lys
NM_001386175.1:c.11359C>A	NP_001373104.1:p.Gln3787Lys
NM_001386186.2:c.4972C>A	NP_001373115.1:p.Gln1658Lys
NM_001386187.2:c.4852C>A	NP_001373116.1:p.Gln1618Lys
NM_020977.5:c.4987C>A	NP_066187.2:p.Gln1663Lys