Canonical Allele Identifier: CA3111603563
Community Standard Title: NM_001148.6(ANK2):c.11086G= (p.Glu3696=)
Gene: ANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.113367619G= , CM000666.2:g.113367619G= GRCh38
NC_000004.11:g.114288775G= , CM000666.1:g.114288775G= GRCh37
NC_000004.10:g.114508224G= NCBI36
NG_009006.2:g.554537G= , LRG_327:g.554537G=

Transcript Alleles

HGVS Amino-acid Change
NM_001148.6:c.11086G= MANE Select NP_001139.3:p.Glu3696=
ENST00000357077.9:c.11086G= MANE Select ENSP00000349588.4:p.Glu3696=
NM_001127493.1:c.4804G= , LRG_327t2:c.4804G= NP_001120965.1:p.Glu1602=
NM_001127493.2:c.4804G= NP_001120965.1:p.Glu1602=
NM_001127493.3:c.4804G= NP_001120965.1:p.Glu1602=
NM_001148.4:c.11086G= , LRG_327t1:c.11086G= NP_001139.3:p.Glu3696=
NM_001148.5:c.11086G= NP_001139.3:p.Glu3696=
NM_001354225.1:c.4843G= NP_001341154.1:p.Glu1615=
NM_001354225.2:c.4843G= NP_001341154.1:p.Glu1615=
NM_001354228.1:c.4732G= NP_001341157.1:p.Glu1578=
NM_001354228.2:c.4732G= NP_001341157.1:p.Glu1578=
NM_001354230.1:c.4810G= NP_001341159.1:p.Glu1604=
NM_001354230.2:c.4810G= NP_001341159.1:p.Glu1604=
NM_001354231.1:c.4873G= NP_001341160.1:p.Glu1625=
NM_001354231.2:c.4873G= NP_001341160.1:p.Glu1625=
NM_001354232.1:c.4867G= NP_001341161.1:p.Glu1623=
NM_001354232.2:c.4867G= NP_001341161.1:p.Glu1623=
NM_001354235.1:c.4828G= NP_001341164.1:p.Glu1610=
NM_001354235.2:c.4828G= NP_001341164.1:p.Glu1610=
NM_001354236.1:c.4729G= NP_001341165.1:p.Glu1577=
NM_001354236.2:c.4729G= NP_001341165.1:p.Glu1577=
NM_001354237.1:c.4909G= NP_001341166.1:p.Glu1637=
NM_001354237.2:c.4909G= NP_001341166.1:p.Glu1637=
NM_001354239.1:c.4801G= NP_001341168.1:p.Glu1601=
NM_001354239.2:c.4801G= NP_001341168.1:p.Glu1601=
NM_001354240.1:c.4876G= NP_001341169.1:p.Glu1626=
NM_001354240.2:c.4876G= NP_001341169.1:p.Glu1626=
NM_001354241.1:c.4876G= NP_001341170.1:p.Glu1626=
NM_001354241.2:c.4876G= NP_001341170.1:p.Glu1626=
NM_001354242.1:c.4873G= NP_001341171.1:p.Glu1625=
NM_001354242.2:c.4873G= NP_001341171.1:p.Glu1625=
NM_001354243.1:c.4768G= NP_001341172.1:p.Glu1590=
NM_001354243.2:c.4768G= NP_001341172.1:p.Glu1590=
NM_001354244.1:c.4765G= NP_001341173.1:p.Glu1589=
NM_001354244.2:c.4765G= NP_001341173.1:p.Glu1589=
NM_001354245.1:c.4669G= NP_001341174.1:p.Glu1557=
NM_001354245.2:c.4669G= NP_001341174.1:p.Glu1557=
NM_001354246.1:c.4828G= NP_001341175.1:p.Glu1610=
NM_001354246.2:c.4828G= NP_001341175.1:p.Glu1610=
NM_001354249.1:c.4645G= NP_001341178.1:p.Glu1549=
NM_001354249.2:c.4645G= NP_001341178.1:p.Glu1549=
NM_001354252.1:c.4801G= NP_001341181.1:p.Glu1601=
NM_001354252.2:c.4801G= NP_001341181.1:p.Glu1601=
NM_001354253.1:c.4606G= NP_001341182.1:p.Glu1536=
NM_001354253.2:c.4606G= NP_001341182.1:p.Glu1536=
NM_001354254.1:c.4780G= NP_001341183.1:p.Glu1594=
NM_001354254.2:c.4780G= NP_001341183.1:p.Glu1594=
NM_001354255.1:c.4768G= NP_001341184.1:p.Glu1590=
NM_001354255.2:c.4768G= NP_001341184.1:p.Glu1590=
NM_001354256.1:c.4765G= NP_001341185.1:p.Glu1589=
NM_001354256.2:c.4765G= NP_001341185.1:p.Glu1589=
NM_001354257.1:c.4570G= NP_001341186.1:p.Glu1524=
NM_001354257.2:c.4570G= NP_001341186.1:p.Glu1524=
NM_001354258.1:c.4732G= NP_001341187.1:p.Glu1578=
NM_001354258.2:c.4732G= NP_001341187.1:p.Glu1578=
NM_001354260.1:c.4546G= NP_001341189.1:p.Glu1516=
NM_001354260.2:c.4546G= NP_001341189.1:p.Glu1516=
NM_001354261.1:c.4690G= NP_001341190.1:p.Glu1564=
NM_001354261.2:c.4690G= NP_001341190.1:p.Glu1564=
NM_001354262.1:c.4669G= NP_001341191.1:p.Glu1557=
NM_001354262.2:c.4669G= NP_001341191.1:p.Glu1557=
NM_001354264.1:c.4666G= NP_001341193.1:p.Glu1556=
NM_001354264.2:c.4666G= NP_001341193.1:p.Glu1556=
NM_001354265.1:c.4828G= NP_001341194.1:p.Glu1610=
NM_001354265.2:c.4828G= NP_001341194.1:p.Glu1610=
NM_001354266.1:c.4645G= NP_001341195.1:p.Glu1549=
NM_001354266.2:c.4645G= NP_001341195.1:p.Glu1549=
NM_001354267.1:c.4645G= NP_001341196.1:p.Glu1549=
NM_001354267.2:c.4645G= NP_001341196.1:p.Glu1549=
NM_001354268.1:c.4633G= NP_001341197.1:p.Glu1545=
NM_001354268.2:c.4633G= NP_001341197.1:p.Glu1545=
NM_001354269.1:c.4618G= NP_001341198.1:p.Glu1540=
NM_001354269.3:c.4618G= NP_001341198.1:p.Glu1540=
NM_001354270.1:c.4606G= NP_001341199.1:p.Glu1536=
NM_001354270.2:c.4606G= NP_001341199.1:p.Glu1536=
NM_001354271.1:c.4546G= NP_001341200.1:p.Glu1516=
NM_001354271.2:c.4546G= NP_001341200.1:p.Glu1516=
NM_001354272.1:c.4702G= NP_001341201.1:p.Glu1568=
NM_001354272.2:c.4702G= NP_001341201.1:p.Glu1568=
NM_001354273.1:c.4531G= NP_001341202.1:p.Glu1511=
NM_001354273.2:c.4531G= NP_001341202.1:p.Glu1511=
NM_001354274.1:c.4597G= NP_001341203.1:p.Glu1533=
NM_001354274.2:c.4597G= NP_001341203.1:p.Glu1533=
NM_001354275.1:c.4669G= NP_001341204.1:p.Glu1557=
NM_001354275.2:c.4669G= NP_001341204.1:p.Glu1557=
NM_001354276.1:c.4645G= NP_001341205.1:p.Glu1549=
NM_001354276.2:c.4645G= NP_001341205.1:p.Glu1549=
NM_001354277.1:c.4447G= NP_001341206.1:p.Glu1483=
NM_001354277.2:c.4447G= NP_001341206.1:p.Glu1483=
NM_001354278.1:c.2359G= NP_001341207.1:p.Glu787=
NM_001354278.2:c.2359G= NP_001341207.1:p.Glu787=
NM_001354279.1:c.2395G= NP_001341208.1:p.Glu799=
NM_001354279.2:c.2395G= NP_001341208.1:p.Glu799=
NM_001354280.1:c.2380G= NP_001341209.1:p.Glu794=
NM_001354280.2:c.2380G= NP_001341209.1:p.Glu794=
NM_001354281.1:c.2359G= NP_001341210.1:p.Glu787=
NM_001354281.2:c.2359G= NP_001341210.1:p.Glu787=
NM_001354282.1:c.2395G= NP_001341211.1:p.Glu799=
NM_001354282.2:c.2395G= NP_001341211.1:p.Glu799=
NM_001386142.1:c.10852G= NP_001373071.1:p.Glu3618=
NM_001386143.1:c.4768G= NP_001373072.1:p.Glu1590=
NM_001386144.1:c.4876G= NP_001373073.1:p.Glu1626=
NM_001386146.1:c.4612G= NP_001373075.1:p.Glu1538=
NM_001386147.1:c.4657G= NP_001373076.1:p.Glu1553=
NM_001386148.2:c.4816G= NP_001373077.1:p.Glu1606=
NM_001386149.1:c.4612G= NP_001373078.1:p.Glu1538=
NM_001386150.1:c.4612G= NP_001373079.1:p.Glu1538=
NM_001386151.1:c.4546G= NP_001373080.1:p.Glu1516=
NM_001386152.1:c.4888G= NP_001373081.1:p.Glu1630=
NM_001386153.1:c.4612G= NP_001373082.1:p.Glu1538=
NM_001386154.1:c.4597G= NP_001373083.1:p.Glu1533=
NM_001386156.1:c.4570G= NP_001373085.1:p.Glu1524=
NM_001386157.1:c.4447G= NP_001373086.1:p.Glu1483=
NM_001386158.1:c.4348G= NP_001373087.1:p.Glu1450=
NM_001386160.1:c.4675G= NP_001373089.1:p.Glu1559=
NM_001386161.1:c.4765G= NP_001373090.1:p.Glu1589=
NM_001386162.1:c.4645G= NP_001373091.1:p.Glu1549=
NM_001386166.1:c.7486G= NP_001373095.1:p.Glu2496=
NM_001386167.1:c.1231G= NP_001373096.1:p.Glu411=
NM_001386174.1:c.11227G= NP_001373103.1:p.Glu3743=
NM_001386175.1:c.11203G= NP_001373104.1:p.Glu3735=
NM_001386186.2:c.4816G= NP_001373115.1:p.Glu1606=
NM_001386187.2:c.4696G= NP_001373116.1:p.Glu1566=
NM_020977.3:c.4831G= NP_066187.2:p.Glu1611=
NM_020977.4:c.4831G= NP_066187.2:p.Glu1611=
NM_020977.5:c.4831G= NP_066187.2:p.Glu1611=
ENST00000264366.10:c.10987G= ENSP00000264366.6:p.Glu3663=
ENST00000357077.8:c.11086G= ENSP00000349588.4:p.Glu3696=
ENST00000394537.7:c.4831G= ENSP00000378044.3:p.Glu1611=
ENST00000503423.6:c.10924G= ENSP00000421011.2:p.Glu3642=
ENST00000505342.5:c.2116G= ENSP00000422498.1:p.Glu706=
ENST00000505342.6:c.2218G= ENSP00000422498.2:p.Glu740=
ENST00000506344.6:c.11227G= ENSP00000422888.2:p.Glu3743=
ENST00000506722.5:c.4804G= ENSP00000421067.1:p.Glu1602=
ENST00000509550.5:c.2359G= ENSP00000426944.1:p.Glu787=
ENST00000510275.6:c.787G= ENSP00000421023.2:p.Glu263=
ENST00000510275.7:c.541G= ENSP00000421023.3:p.Glu181=
ENST00000510275.8:c.1513G= ENSP00000421023.4:p.Glu505=
ENST00000514960.5:c.1835G=
ENST00000612754.1:c.*2447G= ENSP00000482888.1:n.*2447G=
ENST00000612754.2:c.2011G= ENSP00000482888.2:p.Glu671=
ENST00000671704.1:c.4645G= ENSP00000500926.1:p.Glu1549=
ENST00000671727.1:c.4732G= ENSP00000500102.1:p.Glu1578=
ENST00000671756.1:c.4669G= ENSP00000500712.1:p.Glu1557=
ENST00000671762.1:c.4867G= ENSP00000500954.1:p.Glu1623=
ENST00000671793.1:c.4768G= ENSP00000499928.1:p.Glu1590=
ENST00000671809.1:c.10960G= ENSP00000500872.1:p.Glu3654=
ENST00000671825.1:c.4768G= ENSP00000500459.1:p.Glu1590=
ENST00000671854.1:c.4570G= ENSP00000500833.1:p.Glu1524=
ENST00000671863.1:c.*324G= ENSP00000500855.1:n.*324G=
ENST00000671882.1:c.10903G= ENSP00000499887.1:p.Glu3635=
ENST00000671893.1:c.4447G= ENSP00000499986.1:p.Glu1483=
ENST00000671906.1:c.10900G= ENSP00000499953.1:p.Glu3634=
ENST00000671951.1:c.4546G= ENSP00000500528.1:p.Glu1516=
ENST00000671971.1:c.11131G= ENSP00000499832.1:p.Glu3711=
ENST00000672045.1:c.4669G= ENSP00000499959.1:p.Glu1557=
ENST00000672068.1:c.10924G= ENSP00000499902.1:p.Glu3642=
ENST00000672088.1:c.4645G= ENSP00000499837.1:p.Glu1549=
ENST00000672090.1:c.10924G= ENSP00000500540.1:p.Glu3642=
ENST00000672177.1:c.4681G= ENSP00000500918.1:p.Glu1561=
ENST00000672209.1:c.10924G= ENSP00000499982.1:p.Glu3642=
ENST00000672221.1:c.4666G= ENSP00000500473.1:p.Glu1556=
ENST00000672240.1:c.11167G= ENSP00000500548.1:p.Glu3723=
ENST00000672246.1:c.4654G= ENSP00000499990.1:p.Glu1552=
ENST00000672251.1:c.10888G= ENSP00000500580.1:p.Glu3630=
ENST00000672312.1:c.4669G= ENSP00000500378.1:p.Glu1557=
ENST00000672315.1:c.4768G= ENSP00000500780.1:p.Glu1590=
ENST00000672350.1:c.4606G= ENSP00000500420.1:p.Glu1536=
ENST00000672356.1:c.4546G= ENSP00000500544.1:p.Glu1516=
ENST00000672362.1:c.4804G= ENSP00000500522.1:p.Glu1602=
ENST00000672366.1:c.4732G= ENSP00000500937.1:p.Glu1578=
ENST00000672402.1:c.4768G= ENSP00000500881.1:p.Glu1590=
ENST00000672411.1:c.2395G= ENSP00000499979.1:p.Glu799=
ENST00000672502.1:c.10987G= ENSP00000499870.1:p.Glu3663=
ENST00000672684.1:c.4570G= ENSP00000499943.1:p.Glu1524=
ENST00000672696.1:c.4768G= ENSP00000499828.1:p.Glu1590=
ENST00000672731.1:c.4645G= ENSP00000500908.1:p.Glu1549=
ENST00000672759.1:c.4546G= ENSP00000499881.1:p.Glu1516=
ENST00000672779.1:c.4876G= ENSP00000499869.1:p.Glu1626=
ENST00000672793.1:c.4669G= ENSP00000500150.1:p.Glu1557=
ENST00000672830.1:c.11023G= ENSP00000500222.1:p.Glu3675=
ENST00000672854.1:c.4633G= ENSP00000500311.1:p.Glu1545=
ENST00000672880.1:c.4669G= ENSP00000500866.1:p.Glu1557=
ENST00000672915.1:c.2218G= ENSP00000500622.1:p.Glu740=
ENST00000672930.1:c.10924G= ENSP00000499913.1:p.Glu3642=
ENST00000672934.1:c.10825G= ENSP00000500645.1:p.Glu3609=
ENST00000672955.1:c.4645G= ENSP00000500527.1:p.Glu1549=
ENST00000672965.1:c.4705G= ENSP00000499891.1:p.Glu1569=
ENST00000672986.1:c.4249G= ENSP00000499967.1:p.Glu1417=
ENST00000672990.1:c.4705G= ENSP00000500275.1:p.Glu1569=
ENST00000673044.1:c.4768G= ENSP00000500933.1:p.Glu1590=
ENST00000673048.1:c.2380G= ENSP00000500832.1:p.Glu794=
ENST00000673109.1:c.10801G= ENSP00000500265.1:p.Glu3601=
ENST00000673231.1:c.2395G= ENSP00000500111.1:p.Glu799=
ENST00000673240.1:c.4876G= ENSP00000499996.1:p.Glu1626=
ENST00000673255.1:c.4669G= ENSP00000500423.1:p.Glu1557=
ENST00000673298.1:c.10924G= ENSP00000500245.1:p.Glu3642=
ENST00000673334.1:c.10924G= ENSP00000500854.1:p.Glu3642=
ENST00000673353.1:c.2359G= ENSP00000500007.1:p.Glu787=
ENST00000673363.1:c.11032G= ENSP00000500539.1:p.Glu3678=
ENST00000673430.1:c.4669G= ENSP00000500269.1:p.Glu1557=
ENST00000673453.1:c.4597G= ENSP00000500112.1:p.Glu1533=
ENST00000673536.1:c.4339G= ENSP00000500524.1:p.Glu1447=
ENST00000673538.1:c.*324G= ENSP00000500842.1:n.*324G=
ENST00000673546.1:c.4606G= ENSP00000500843.1:p.Glu1536=
ENST00000673555.1:c.10924G= ENSP00000500947.1:p.Glu3642=
ENST00000673573.1:c.10861G= ENSP00000500883.1:p.Glu3621=
ENST00000681990.1:n.2468G=
ENST00000682049.1:n.1676G=
ENST00000682959.1:n.2420G=
ENST00000683389.1:n.1249G=
ENST00000683826.1:n.3211G=
ENST00000683893.1:n.1192G=
ENST00000683908.1:n.1585G=
ENST00000683972.1:n.7931G=
ENST00000684225.1:n.2557G=
ENST00000684378.1:n.541G=
ENST00000684470.1:n.2975G=
ENST00000684730.1:n.1190G=
ENST00000705785.1:c.4912G= ENSP00000516169.1:p.Glu1638=
XM_005262942.3:c.11119G= XP_005262999.1:p.Glu3707=
XM_005262945.1:c.10987G= XP_005263002.1:p.Glu3663=
XM_005262945.3:c.10987G= XP_005263002.1:p.Glu3663=
XM_005262948.3:c.4828G= XP_005263005.1:p.Glu1610=
XM_006714188.2:c.11173G= XP_006714251.1:p.Glu3725=
XM_006714189.2:c.11137G= XP_006714252.1:p.Glu3713=
XM_006714190.2:c.4885G= XP_006714253.1:p.Glu1629=
XM_006714191.2:c.4918G= XP_006714254.1:p.Glu1640=
XM_006714192.2:c.4849G= XP_006714255.1:p.Glu1617=
XM_006714193.2:c.4918G= XP_006714256.1:p.Glu1640=
XM_006714194.2:c.11113G= XP_006714257.1:p.Glu3705=
XM_011531891.1:c.11158G= XP_011530193.1:p.Glu3720=
XM_017008067.1:c.11227G= XP_016863556.1:p.Glu3743=
XM_017008069.1:c.11203G= XP_016863558.1:p.Glu3735=
XM_017008071.2:c.11113G= XP_016863560.1:p.Glu3705=
XM_017008072.2:c.11089G= XP_016863561.1:p.Glu3697=
XM_017008073.2:c.11086G= XP_016863562.1:p.Glu3696=
XM_017008074.2:c.11059G= XP_016863563.1:p.Glu3687=
XM_017008075.2:c.11023G= XP_016863564.1:p.Glu3675=
XM_017008076.2:c.11086G= XP_016863565.1:p.Glu3696=
XM_017008077.2:c.10900G= XP_016863566.1:p.Glu3634=
XM_017008078.2:c.4831G= XP_016863567.1:p.Glu1611=
XM_017008080.2:c.4681G= XP_016863569.1:p.Glu1561=
XM_024454016.1:c.11122G= XP_024309784.1:p.Glu3708=
XM_024454017.1:c.4867G= XP_024309785.1:p.Glu1623=
XM_024454018.1:c.4732G= XP_024309786.1:p.Glu1578=
XM_024454019.1:c.4810G= XP_024309787.1:p.Glu1604=
XM_024454020.1:c.4732G= XP_024309788.1:p.Glu1578=
XM_024454021.1:c.4729G= XP_024309789.1:p.Glu1577=
XM_024454022.1:c.4669G= XP_024309790.1:p.Glu1557=
XM_024454023.1:c.4531G= XP_024309791.1:p.Glu1511=