Canonical Allele Identifier: CA357941459

Gene: ANK2

Linked Data

• gnomAD v4: 4-113363469-G-T
• MyVariant Identifiers: chr4:g.114284625G>T (hg19) ; chr4:g.113363469G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.113363469G>T , CM000666.2:g.113363469G>T	GRCh38
NC_000004.11:g.114284625G>T , CM000666.1:g.114284625G>T	GRCh37
NC_000004.10:g.114504074G>T	NCBI36
NG_009006.2:g.550387G>T , LRG_327:g.550387G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506344.6:c.11029G>T	ENSP00000422888.2:p.Asp3677Tyr
ENST00000705785.1:c.4714G>T	ENSP00000516169.1:p.Asp1572Tyr
ENST00000510275.8:c.1315G>T	ENSP00000421023.4:p.Asp439Tyr
ENST00000612754.2:c.1813G>T	ENSP00000482888.2:p.Asp605Tyr
ENST00000681990.1:n.2270G>T
ENST00000682049.1:n.1478G>T
ENST00000682959.1:n.2222G>T
ENST00000683389.1:n.1051G>T
ENST00000683826.1:n.3013G>T
ENST00000683908.1:n.1387G>T
ENST00000683972.1:n.7733G>T
ENST00000684225.1:n.2359G>T
ENST00000684470.1:n.2777G>T
ENST00000357077.9:c.10888G>T MANE Select	ENSP00000349588.4:p.Asp3630Tyr
ENST00000503423.6:c.10726G>T	ENSP00000421011.2:p.Asp3576Tyr
ENST00000505342.6:c.2020G>T	ENSP00000422498.2:p.Asp674Tyr
ENST00000510275.7:c.343G>T	ENSP00000421023.3:p.Asp115Tyr
ENST00000671704.1:c.4447G>T	ENSP00000500926.1:p.Asp1483Tyr
ENST00000671727.1:c.4534G>T	ENSP00000500102.1:p.Asp1512Tyr
ENST00000671756.1:c.4471G>T	ENSP00000500712.1:p.Asp1491Tyr
ENST00000671762.1:c.4669G>T	ENSP00000500954.1:p.Asp1557Tyr
ENST00000671793.1:c.4570G>T	ENSP00000499928.1:p.Asp1524Tyr
ENST00000671809.1:c.10762G>T	ENSP00000500872.1:p.Asp3588Tyr
ENST00000671825.1:c.4570G>T	ENSP00000500459.1:p.Asp1524Tyr
ENST00000671854.1:c.4372G>T	ENSP00000500833.1:p.Asp1458Tyr
ENST00000671863.1:c.*126G>T	ENSP00000500855.1:n.*126G>T
ENST00000671882.1:c.10705G>T	ENSP00000499887.1:p.Asp3569Tyr
ENST00000671893.1:c.4249G>T	ENSP00000499986.1:p.Asp1417Tyr
ENST00000671906.1:c.10702G>T	ENSP00000499953.1:p.Asp3568Tyr
ENST00000671951.1:c.4348G>T	ENSP00000500528.1:p.Asp1450Tyr
ENST00000671971.1:c.10933G>T	ENSP00000499832.1:p.Asp3645Tyr
ENST00000672045.1:c.4471G>T	ENSP00000499959.1:p.Asp1491Tyr
ENST00000672068.1:c.10726G>T	ENSP00000499902.1:p.Asp3576Tyr
ENST00000672088.1:c.4447G>T	ENSP00000499837.1:p.Asp1483Tyr
ENST00000672090.1:c.10726G>T	ENSP00000500540.1:p.Asp3576Tyr
ENST00000672177.1:c.4483G>T	ENSP00000500918.1:p.Asp1495Tyr
ENST00000672209.1:c.10726G>T	ENSP00000499982.1:p.Asp3576Tyr
ENST00000672221.1:c.4468G>T	ENSP00000500473.1:p.Asp1490Tyr
ENST00000672240.1:c.10969G>T	ENSP00000500548.1:p.Asp3657Tyr
ENST00000672246.1:c.4456G>T	ENSP00000499990.1:p.Asp1486Tyr
ENST00000672251.1:c.10690G>T	ENSP00000500580.1:p.Asp3564Tyr
ENST00000672312.1:c.4471G>T	ENSP00000500378.1:p.Asp1491Tyr
ENST00000672315.1:c.4570G>T	ENSP00000500780.1:p.Asp1524Tyr
ENST00000672350.1:c.4408G>T	ENSP00000500420.1:p.Asp1470Tyr
ENST00000672356.1:c.4348G>T	ENSP00000500544.1:p.Asp1450Tyr
ENST00000672362.1:c.4606G>T	ENSP00000500522.1:p.Asp1536Tyr
ENST00000672366.1:c.4534G>T	ENSP00000500937.1:p.Asp1512Tyr
ENST00000672402.1:c.4570G>T	ENSP00000500881.1:p.Asp1524Tyr
ENST00000672411.1:c.2197G>T	ENSP00000499979.1:p.Asp733Tyr
ENST00000672502.1:c.10789G>T	ENSP00000499870.1:p.Asp3597Tyr
ENST00000672684.1:c.4372G>T	ENSP00000499943.1:p.Asp1458Tyr
ENST00000672696.1:c.4570G>T	ENSP00000499828.1:p.Asp1524Tyr
ENST00000672731.1:c.4447G>T	ENSP00000500908.1:p.Asp1483Tyr
ENST00000672759.1:c.4348G>T	ENSP00000499881.1:p.Asp1450Tyr
ENST00000672779.1:c.4678G>T	ENSP00000499869.1:p.Asp1560Tyr
ENST00000672793.1:c.4471G>T	ENSP00000500150.1:p.Asp1491Tyr
ENST00000672830.1:c.10825G>T	ENSP00000500222.1:p.Asp3609Tyr
ENST00000672854.1:c.4435G>T	ENSP00000500311.1:p.Asp1479Tyr
ENST00000672880.1:c.4471G>T	ENSP00000500866.1:p.Asp1491Tyr
ENST00000672915.1:c.2020G>T	ENSP00000500622.1:p.Asp674Tyr
ENST00000672930.1:c.10726G>T	ENSP00000499913.1:p.Asp3576Tyr
ENST00000672934.1:c.10627G>T	ENSP00000500645.1:p.Asp3543Tyr
ENST00000672955.1:c.4447G>T	ENSP00000500527.1:p.Asp1483Tyr
ENST00000672965.1:c.4507G>T	ENSP00000499891.1:p.Asp1503Tyr
ENST00000672986.1:c.4051G>T	ENSP00000499967.1:p.Asp1351Tyr
ENST00000672990.1:c.4507G>T	ENSP00000500275.1:p.Asp1503Tyr
ENST00000673044.1:c.4570G>T	ENSP00000500933.1:p.Asp1524Tyr
ENST00000673048.1:c.2182G>T	ENSP00000500832.1:p.Asp728Tyr
ENST00000673109.1:c.10603G>T	ENSP00000500265.1:p.Asp3535Tyr
ENST00000673231.1:c.2197G>T	ENSP00000500111.1:p.Asp733Tyr
ENST00000673240.1:c.4678G>T	ENSP00000499996.1:p.Asp1560Tyr
ENST00000673255.1:c.4471G>T	ENSP00000500423.1:p.Asp1491Tyr
ENST00000673298.1:c.10726G>T	ENSP00000500245.1:p.Asp3576Tyr
ENST00000673334.1:c.10726G>T	ENSP00000500854.1:p.Asp3576Tyr
ENST00000673353.1:c.2161G>T	ENSP00000500007.1:p.Asp721Tyr
ENST00000673363.1:c.10834G>T	ENSP00000500539.1:p.Asp3612Tyr
ENST00000673430.1:c.4471G>T	ENSP00000500269.1:p.Asp1491Tyr
ENST00000673453.1:c.4399G>T	ENSP00000500112.1:p.Asp1467Tyr
ENST00000673536.1:c.4141G>T	ENSP00000500524.1:p.Asp1381Tyr
ENST00000673538.1:c.*126G>T	ENSP00000500842.1:n.*126G>T
ENST00000673546.1:c.4408G>T	ENSP00000500843.1:p.Asp1470Tyr
ENST00000673555.1:c.10726G>T	ENSP00000500947.1:p.Asp3576Tyr
ENST00000673573.1:c.10663G>T	ENSP00000500883.1:p.Asp3555Tyr
ENST00000264366.10:c.10789G>T	ENSP00000264366.6:p.Asp3597Tyr
ENST00000357077.8:c.10888G>T	ENSP00000349588.4:p.Asp3630Tyr
ENST00000394537.7:c.4633G>T	ENSP00000378044.3:p.Asp1545Tyr
ENST00000505342.5:c.1918G>T	ENSP00000422498.1:p.Asp640Tyr
ENST00000506722.5:c.4606G>T	ENSP00000421067.1:p.Asp1536Tyr
ENST00000508007.5:n.742G>T
ENST00000509550.5:c.2161G>T	ENSP00000426944.1:p.Asp721Tyr
ENST00000510275.6:c.589G>T	ENSP00000421023.2:p.Asp197Tyr
ENST00000514960.5:c.1637G>T
ENST00000612754.1:c.*2249G>T	ENSP00000482888.1:n.*2249G>T
NM_001127493.1:c.4606G>T , LRG_327t2:c.4606G>T	NP_001120965.1:p.Asp1536Tyr
NM_001148.4:c.10888G>T , LRG_327t1:c.10888G>T	NP_001139.3:p.Asp3630Tyr
NM_020977.3:c.4633G>T	NP_066187.2:p.Asp1545Tyr
XM_005262942.3:c.10921G>T	XP_005262999.1:p.Asp3641Tyr
XM_005262945.1:c.10789G>T	XP_005263002.1:p.Asp3597Tyr
XM_005262948.3:c.4630G>T	XP_005263005.1:p.Asp1544Tyr
XM_006714188.2:c.10975G>T	XP_006714251.1:p.Asp3659Tyr
XM_006714189.2:c.10939G>T	XP_006714252.1:p.Asp3647Tyr
XM_006714190.2:c.4687G>T	XP_006714253.1:p.Asp1563Tyr
XM_006714191.2:c.4720G>T	XP_006714254.1:p.Asp1574Tyr
XM_006714192.2:c.4651G>T	XP_006714255.1:p.Asp1551Tyr
XM_006714193.2:c.4720G>T	XP_006714256.1:p.Asp1574Tyr
XM_006714194.2:c.10915G>T	XP_006714257.1:p.Asp3639Tyr
XM_011531891.1:c.10960G>T	XP_011530193.1:p.Asp3654Tyr
NM_001127493.2:c.4606G>T	NP_001120965.1:p.Asp1536Tyr
NM_001148.5:c.10888G>T	NP_001139.3:p.Asp3630Tyr
NM_001354225.1:c.4645G>T	NP_001341154.1:p.Asp1549Tyr
NM_001354228.1:c.4534G>T	NP_001341157.1:p.Asp1512Tyr
NM_001354230.1:c.4612G>T	NP_001341159.1:p.Asp1538Tyr
NM_001354231.1:c.4675G>T	NP_001341160.1:p.Asp1559Tyr
NM_001354232.1:c.4669G>T	NP_001341161.1:p.Asp1557Tyr
NM_001354235.1:c.4630G>T	NP_001341164.1:p.Asp1544Tyr
NM_001354236.1:c.4531G>T	NP_001341165.1:p.Asp1511Tyr
NM_001354237.1:c.4711G>T	NP_001341166.1:p.Asp1571Tyr
NM_001354239.1:c.4603G>T	NP_001341168.1:p.Asp1535Tyr
NM_001354240.1:c.4678G>T	NP_001341169.1:p.Asp1560Tyr
NM_001354241.1:c.4678G>T	NP_001341170.1:p.Asp1560Tyr
NM_001354242.1:c.4675G>T	NP_001341171.1:p.Asp1559Tyr
NM_001354243.1:c.4570G>T	NP_001341172.1:p.Asp1524Tyr
NM_001354244.1:c.4567G>T	NP_001341173.1:p.Asp1523Tyr
NM_001354245.1:c.4471G>T	NP_001341174.1:p.Asp1491Tyr
NM_001354246.1:c.4630G>T	NP_001341175.1:p.Asp1544Tyr
NM_001354249.1:c.4447G>T	NP_001341178.1:p.Asp1483Tyr
NM_001354252.1:c.4603G>T	NP_001341181.1:p.Asp1535Tyr
NM_001354253.1:c.4408G>T	NP_001341182.1:p.Asp1470Tyr
NM_001354254.1:c.4582G>T	NP_001341183.1:p.Asp1528Tyr
NM_001354255.1:c.4570G>T	NP_001341184.1:p.Asp1524Tyr
NM_001354256.1:c.4567G>T	NP_001341185.1:p.Asp1523Tyr
NM_001354257.1:c.4372G>T	NP_001341186.1:p.Asp1458Tyr
NM_001354258.1:c.4534G>T	NP_001341187.1:p.Asp1512Tyr
NM_001354260.1:c.4348G>T	NP_001341189.1:p.Asp1450Tyr
NM_001354261.1:c.4492G>T	NP_001341190.1:p.Asp1498Tyr
NM_001354262.1:c.4471G>T	NP_001341191.1:p.Asp1491Tyr
NM_001354264.1:c.4468G>T	NP_001341193.1:p.Asp1490Tyr
NM_001354265.1:c.4630G>T	NP_001341194.1:p.Asp1544Tyr
NM_001354266.1:c.4447G>T	NP_001341195.1:p.Asp1483Tyr
NM_001354267.1:c.4447G>T	NP_001341196.1:p.Asp1483Tyr
NM_001354268.1:c.4435G>T	NP_001341197.1:p.Asp1479Tyr
NM_001354269.1:c.4420G>T	NP_001341198.1:p.Asp1474Tyr
NM_001354270.1:c.4408G>T	NP_001341199.1:p.Asp1470Tyr
NM_001354271.1:c.4348G>T	NP_001341200.1:p.Asp1450Tyr
NM_001354272.1:c.4504G>T	NP_001341201.1:p.Asp1502Tyr
NM_001354273.1:c.4333G>T	NP_001341202.1:p.Asp1445Tyr
NM_001354274.1:c.4399G>T	NP_001341203.1:p.Asp1467Tyr
NM_001354275.1:c.4471G>T	NP_001341204.1:p.Asp1491Tyr
NM_001354276.1:c.4447G>T	NP_001341205.1:p.Asp1483Tyr
NM_001354277.1:c.4249G>T	NP_001341206.1:p.Asp1417Tyr
NM_001354278.1:c.2161G>T	NP_001341207.1:p.Asp721Tyr
NM_001354279.1:c.2197G>T	NP_001341208.1:p.Asp733Tyr
NM_001354280.1:c.2182G>T	NP_001341209.1:p.Asp728Tyr
NM_001354281.1:c.2161G>T	NP_001341210.1:p.Asp721Tyr
NM_001354282.1:c.2197G>T	NP_001341211.1:p.Asp733Tyr
NM_020977.4:c.4633G>T	NP_066187.2:p.Asp1545Tyr
XM_005262945.3:c.10789G>T	XP_005263002.1:p.Asp3597Tyr
XM_017008067.1:c.11029G>T	XP_016863556.1:p.Asp3677Tyr
XM_017008069.1:c.11005G>T	XP_016863558.1:p.Asp3669Tyr
XM_017008071.2:c.10915G>T	XP_016863560.1:p.Asp3639Tyr
XM_017008072.2:c.10891G>T	XP_016863561.1:p.Asp3631Tyr
XM_017008073.2:c.10888G>T	XP_016863562.1:p.Asp3630Tyr
XM_017008074.2:c.10861G>T	XP_016863563.1:p.Asp3621Tyr
XM_017008075.2:c.10825G>T	XP_016863564.1:p.Asp3609Tyr
XM_017008076.2:c.10888G>T	XP_016863565.1:p.Asp3630Tyr
XM_017008077.2:c.10702G>T	XP_016863566.1:p.Asp3568Tyr
XM_017008078.2:c.4633G>T	XP_016863567.1:p.Asp1545Tyr
XM_017008080.2:c.4483G>T	XP_016863569.1:p.Asp1495Tyr
XM_024454016.1:c.10924G>T	XP_024309784.1:p.Asp3642Tyr
XM_024454017.1:c.4669G>T	XP_024309785.1:p.Asp1557Tyr
XM_024454018.1:c.4534G>T	XP_024309786.1:p.Asp1512Tyr
XM_024454019.1:c.4612G>T	XP_024309787.1:p.Asp1538Tyr
XM_024454020.1:c.4534G>T	XP_024309788.1:p.Asp1512Tyr
XM_024454021.1:c.4531G>T	XP_024309789.1:p.Asp1511Tyr
XM_024454022.1:c.4471G>T	XP_024309790.1:p.Asp1491Tyr
XM_024454023.1:c.4333G>T	XP_024309791.1:p.Asp1445Tyr
NM_001148.6:c.10888G>T MANE Select	NP_001139.3:p.Asp3630Tyr
NM_001127493.3:c.4606G>T	NP_001120965.1:p.Asp1536Tyr
NM_001354225.2:c.4645G>T	NP_001341154.1:p.Asp1549Tyr
NM_001354228.2:c.4534G>T	NP_001341157.1:p.Asp1512Tyr
NM_001354230.2:c.4612G>T	NP_001341159.1:p.Asp1538Tyr
NM_001354231.2:c.4675G>T	NP_001341160.1:p.Asp1559Tyr
NM_001354232.2:c.4669G>T	NP_001341161.1:p.Asp1557Tyr
NM_001354235.2:c.4630G>T	NP_001341164.1:p.Asp1544Tyr
NM_001354236.2:c.4531G>T	NP_001341165.1:p.Asp1511Tyr
NM_001354237.2:c.4711G>T	NP_001341166.1:p.Asp1571Tyr
NM_001354239.2:c.4603G>T	NP_001341168.1:p.Asp1535Tyr
NM_001354240.2:c.4678G>T	NP_001341169.1:p.Asp1560Tyr
NM_001354241.2:c.4678G>T	NP_001341170.1:p.Asp1560Tyr
NM_001354242.2:c.4675G>T	NP_001341171.1:p.Asp1559Tyr
NM_001354243.2:c.4570G>T	NP_001341172.1:p.Asp1524Tyr
NM_001354244.2:c.4567G>T	NP_001341173.1:p.Asp1523Tyr
NM_001354245.2:c.4471G>T	NP_001341174.1:p.Asp1491Tyr
NM_001354246.2:c.4630G>T	NP_001341175.1:p.Asp1544Tyr
NM_001354249.2:c.4447G>T	NP_001341178.1:p.Asp1483Tyr
NM_001354252.2:c.4603G>T	NP_001341181.1:p.Asp1535Tyr
NM_001354253.2:c.4408G>T	NP_001341182.1:p.Asp1470Tyr
NM_001354254.2:c.4582G>T	NP_001341183.1:p.Asp1528Tyr
NM_001354255.2:c.4570G>T	NP_001341184.1:p.Asp1524Tyr
NM_001354256.2:c.4567G>T	NP_001341185.1:p.Asp1523Tyr
NM_001354257.2:c.4372G>T	NP_001341186.1:p.Asp1458Tyr
NM_001354258.2:c.4534G>T	NP_001341187.1:p.Asp1512Tyr
NM_001354260.2:c.4348G>T	NP_001341189.1:p.Asp1450Tyr
NM_001354261.2:c.4492G>T	NP_001341190.1:p.Asp1498Tyr
NM_001354262.2:c.4471G>T	NP_001341191.1:p.Asp1491Tyr
NM_001354264.2:c.4468G>T	NP_001341193.1:p.Asp1490Tyr
NM_001354265.2:c.4630G>T	NP_001341194.1:p.Asp1544Tyr
NM_001354266.2:c.4447G>T	NP_001341195.1:p.Asp1483Tyr
NM_001354267.2:c.4447G>T	NP_001341196.1:p.Asp1483Tyr
NM_001354268.2:c.4435G>T	NP_001341197.1:p.Asp1479Tyr
NM_001354269.3:c.4420G>T	NP_001341198.1:p.Asp1474Tyr
NM_001354270.2:c.4408G>T	NP_001341199.1:p.Asp1470Tyr
NM_001354271.2:c.4348G>T	NP_001341200.1:p.Asp1450Tyr
NM_001354272.2:c.4504G>T	NP_001341201.1:p.Asp1502Tyr
NM_001354273.2:c.4333G>T	NP_001341202.1:p.Asp1445Tyr
NM_001354274.2:c.4399G>T	NP_001341203.1:p.Asp1467Tyr
NM_001354275.2:c.4471G>T	NP_001341204.1:p.Asp1491Tyr
NM_001354276.2:c.4447G>T	NP_001341205.1:p.Asp1483Tyr
NM_001354277.2:c.4249G>T	NP_001341206.1:p.Asp1417Tyr
NM_001354278.2:c.2161G>T	NP_001341207.1:p.Asp721Tyr
NM_001354279.2:c.2197G>T	NP_001341208.1:p.Asp733Tyr
NM_001354280.2:c.2182G>T	NP_001341209.1:p.Asp728Tyr
NM_001354281.2:c.2161G>T	NP_001341210.1:p.Asp721Tyr
NM_001354282.2:c.2197G>T	NP_001341211.1:p.Asp733Tyr
NM_001386142.1:c.10654G>T	NP_001373071.1:p.Asp3552Tyr
NM_001386143.1:c.4570G>T	NP_001373072.1:p.Asp1524Tyr
NM_001386144.1:c.4678G>T	NP_001373073.1:p.Asp1560Tyr
NM_001386146.1:c.4414G>T	NP_001373075.1:p.Asp1472Tyr
NM_001386147.1:c.4459G>T	NP_001373076.1:p.Asp1487Tyr
NM_001386148.2:c.4618G>T	NP_001373077.1:p.Asp1540Tyr
NM_001386149.1:c.4414G>T	NP_001373078.1:p.Asp1472Tyr
NM_001386150.1:c.4414G>T	NP_001373079.1:p.Asp1472Tyr
NM_001386151.1:c.4348G>T	NP_001373080.1:p.Asp1450Tyr
NM_001386152.1:c.4690G>T	NP_001373081.1:p.Asp1564Tyr
NM_001386153.1:c.4414G>T	NP_001373082.1:p.Asp1472Tyr
NM_001386154.1:c.4399G>T	NP_001373083.1:p.Asp1467Tyr
NM_001386156.1:c.4372G>T	NP_001373085.1:p.Asp1458Tyr
NM_001386157.1:c.4249G>T	NP_001373086.1:p.Asp1417Tyr
NM_001386158.1:c.4150G>T	NP_001373087.1:p.Asp1384Tyr
NM_001386160.1:c.4477G>T	NP_001373089.1:p.Asp1493Tyr
NM_001386161.1:c.4567G>T	NP_001373090.1:p.Asp1523Tyr
NM_001386162.1:c.4447G>T	NP_001373091.1:p.Asp1483Tyr
NM_001386166.1:c.7288G>T	NP_001373095.1:p.Asp2430Tyr
NM_001386167.1:c.1033G>T	NP_001373096.1:p.Asp345Tyr
NM_001386174.1:c.11029G>T	NP_001373103.1:p.Asp3677Tyr
NM_001386175.1:c.11005G>T	NP_001373104.1:p.Asp3669Tyr
NM_001386186.2:c.4618G>T	NP_001373115.1:p.Asp1540Tyr
NM_001386187.2:c.4498G>T	NP_001373116.1:p.Asp1500Tyr
NM_020977.5:c.4633G>T	NP_066187.2:p.Asp1545Tyr