Canonical Allele Identifier: CA3052443
Community Standard Title: NM_001148.6(ANK2):c.11862C>T (p.Asp3954=)
Gene: ANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.113381459C>T , CM000666.2:g.113381459C>T GRCh38
NC_000004.11:g.114302615C>T , CM000666.1:g.114302615C>T GRCh37
NC_000004.10:g.114522064C>T NCBI36
NG_009006.2:g.568377C>T , LRG_327:g.568377C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001148.6:c.11862C>T MANE Select NP_001139.3:p.Asp3954=
ENST00000357077.9:c.11862C>T MANE Select ENSP00000349588.4:p.Asp3954=
NM_001127493.1:c.5580C>T , LRG_327t2:c.5580C>T NP_001120965.1:p.Asp1860=
NM_001127493.2:c.5580C>T NP_001120965.1:p.Asp1860=
NM_001127493.3:c.5580C>T NP_001120965.1:p.Asp1860=
NM_001148.4:c.11862C>T , LRG_327t1:c.11862C>T NP_001139.3:p.Asp3954=
NM_001148.5:c.11862C>T NP_001139.3:p.Asp3954=
NM_001354225.1:c.5802C>T NP_001341154.1:p.Asp1934=
NM_001354225.2:c.5802C>T NP_001341154.1:p.Asp1934=
NM_001354228.1:c.5784C>T NP_001341157.1:p.Asp1928=
NM_001354228.2:c.5784C>T NP_001341157.1:p.Asp1928=
NM_001354230.1:c.5769C>T NP_001341159.1:p.Asp1923=
NM_001354230.2:c.5769C>T NP_001341159.1:p.Asp1923=
NM_001354231.1:c.5742C>T NP_001341160.1:p.Asp1914=
NM_001354231.2:c.5742C>T NP_001341160.1:p.Asp1914=
NM_001354232.1:c.5736C>T NP_001341161.1:p.Asp1912=
NM_001354232.2:c.5736C>T NP_001341161.1:p.Asp1912=
NM_001354235.1:c.5697C>T NP_001341164.1:p.Asp1899=
NM_001354235.2:c.5697C>T NP_001341164.1:p.Asp1899=
NM_001354236.1:c.5688C>T NP_001341165.1:p.Asp1896=
NM_001354236.2:c.5688C>T NP_001341165.1:p.Asp1896=
NM_001354237.1:c.5685C>T NP_001341166.1:p.Asp1895=
NM_001354237.2:c.5685C>T NP_001341166.1:p.Asp1895=
NM_001354239.1:c.5670C>T NP_001341168.1:p.Asp1890=
NM_001354239.2:c.5670C>T NP_001341168.1:p.Asp1890=
NM_001354240.1:c.5652C>T NP_001341169.1:p.Asp1884=
NM_001354240.2:c.5652C>T NP_001341169.1:p.Asp1884=
NM_001354241.1:c.5652C>T NP_001341170.1:p.Asp1884=
NM_001354241.2:c.5652C>T NP_001341170.1:p.Asp1884=
NM_001354242.1:c.5649C>T NP_001341171.1:p.Asp1883=
NM_001354242.2:c.5649C>T NP_001341171.1:p.Asp1883=
NM_001354243.1:c.5637C>T NP_001341172.1:p.Asp1879=
NM_001354243.2:c.5637C>T NP_001341172.1:p.Asp1879=
NM_001354244.1:c.5634C>T NP_001341173.1:p.Asp1878=
NM_001354244.2:c.5634C>T NP_001341173.1:p.Asp1878=
NM_001354245.1:c.5628C>T NP_001341174.1:p.Asp1876=
NM_001354245.2:c.5628C>T NP_001341174.1:p.Asp1876=
NM_001354246.1:c.5604C>T NP_001341175.1:p.Asp1868=
NM_001354246.2:c.5604C>T NP_001341175.1:p.Asp1868=
NM_001354249.1:c.5604C>T NP_001341178.1:p.Asp1868=
NM_001354249.2:c.5604C>T NP_001341178.1:p.Asp1868=
NM_001354252.1:c.5577C>T NP_001341181.1:p.Asp1859=
NM_001354252.2:c.5577C>T NP_001341181.1:p.Asp1859=
NM_001354253.1:c.5565C>T NP_001341182.1:p.Asp1855=
NM_001354253.2:c.5565C>T NP_001341182.1:p.Asp1855=
NM_001354254.1:c.5556C>T NP_001341183.1:p.Asp1852=
NM_001354254.2:c.5556C>T NP_001341183.1:p.Asp1852=
NM_001354255.1:c.5544C>T NP_001341184.1:p.Asp1848=
NM_001354255.2:c.5544C>T NP_001341184.1:p.Asp1848=
NM_001354256.1:c.5541C>T NP_001341185.1:p.Asp1847=
NM_001354256.2:c.5541C>T NP_001341185.1:p.Asp1847=
NM_001354257.1:c.5529C>T NP_001341186.1:p.Asp1843=
NM_001354257.2:c.5529C>T NP_001341186.1:p.Asp1843=
NM_001354258.1:c.5508C>T NP_001341187.1:p.Asp1836=
NM_001354258.2:c.5508C>T NP_001341187.1:p.Asp1836=
NM_001354260.1:c.5505C>T NP_001341189.1:p.Asp1835=
NM_001354260.2:c.5505C>T NP_001341189.1:p.Asp1835=
NM_001354261.1:c.5466C>T NP_001341190.1:p.Asp1822=
NM_001354261.2:c.5466C>T NP_001341190.1:p.Asp1822=
NM_001354262.1:c.5445C>T NP_001341191.1:p.Asp1815=
NM_001354262.2:c.5445C>T NP_001341191.1:p.Asp1815=
NM_001354264.1:c.5442C>T NP_001341193.1:p.Asp1814=
NM_001354264.2:c.5442C>T NP_001341193.1:p.Asp1814=
NM_001354265.1:c.5439C>T NP_001341194.1:p.Asp1813=
NM_001354265.2:c.5439C>T NP_001341194.1:p.Asp1813=
NM_001354266.1:c.5421C>T NP_001341195.1:p.Asp1807=
NM_001354266.2:c.5421C>T NP_001341195.1:p.Asp1807=
NM_001354267.1:c.5421C>T NP_001341196.1:p.Asp1807=
NM_001354267.2:c.5421C>T NP_001341196.1:p.Asp1807=
NM_001354268.1:c.5409C>T NP_001341197.1:p.Asp1803=
NM_001354268.2:c.5409C>T NP_001341197.1:p.Asp1803=
NM_001354269.1:c.5394C>T NP_001341198.1:p.Asp1798=
NM_001354269.3:c.5394C>T NP_001341198.1:p.Asp1798=
NM_001354270.1:c.5382C>T NP_001341199.1:p.Asp1794=
NM_001354270.2:c.5382C>T NP_001341199.1:p.Asp1794=
NM_001354271.1:c.5322C>T NP_001341200.1:p.Asp1774=
NM_001354271.2:c.5322C>T NP_001341200.1:p.Asp1774=
NM_001354272.1:c.5313C>T NP_001341201.1:p.Asp1771=
NM_001354272.2:c.5313C>T NP_001341201.1:p.Asp1771=
NM_001354273.1:c.5307C>T NP_001341202.1:p.Asp1769=
NM_001354273.2:c.5307C>T NP_001341202.1:p.Asp1769=
NM_001354274.1:c.5301C>T NP_001341203.1:p.Asp1767=
NM_001354274.2:c.5301C>T NP_001341203.1:p.Asp1767=
NM_001354275.1:c.5280C>T NP_001341204.1:p.Asp1760=
NM_001354275.2:c.5280C>T NP_001341204.1:p.Asp1760=
NM_001354276.1:c.5256C>T NP_001341205.1:p.Asp1752=
NM_001354276.2:c.5256C>T NP_001341205.1:p.Asp1752=
NM_001354277.1:c.5058C>T NP_001341206.1:p.Asp1686=
NM_001354277.2:c.5058C>T NP_001341206.1:p.Asp1686=
NM_001354278.1:c.3318C>T NP_001341207.1:p.Asp1106=
NM_001354278.2:c.3318C>T NP_001341207.1:p.Asp1106=
NM_001354279.1:c.3171C>T NP_001341208.1:p.Asp1057=
NM_001354279.2:c.3171C>T NP_001341208.1:p.Asp1057=
NM_001354280.1:c.3156C>T NP_001341209.1:p.Asp1052=
NM_001354280.2:c.3156C>T NP_001341209.1:p.Asp1052=
NM_001354281.1:c.3135C>T NP_001341210.1:p.Asp1045=
NM_001354281.2:c.3135C>T NP_001341210.1:p.Asp1045=
NM_001354282.1:c.3006C>T NP_001341211.1:p.Asp1002=
NM_001354282.2:c.3006C>T NP_001341211.1:p.Asp1002=
NM_001386142.1:c.11811C>T NP_001373071.1:p.Asp3937=
NM_001386143.1:c.5820C>T NP_001373072.1:p.Asp1940=
NM_001386144.1:c.5745C>T NP_001373073.1:p.Asp1915=
NM_001386146.1:c.5664C>T NP_001373075.1:p.Asp1888=
NM_001386147.1:c.5616C>T NP_001373076.1:p.Asp1872=
NM_001386148.2:c.5592C>T NP_001373077.1:p.Asp1864=
NM_001386149.1:c.5571C>T NP_001373078.1:p.Asp1857=
NM_001386150.1:c.5481C>T NP_001373079.1:p.Asp1827=
NM_001386151.1:c.5415C>T NP_001373080.1:p.Asp1805=
NM_001386152.1:c.5415C>T NP_001373081.1:p.Asp1805=
NM_001386153.1:c.5388C>T NP_001373082.1:p.Asp1796=
NM_001386154.1:c.5373C>T NP_001373083.1:p.Asp1791=
NM_001386156.1:c.5346C>T NP_001373085.1:p.Asp1782=
NM_001386157.1:c.5223C>T NP_001373086.1:p.Asp1741=
NM_001386158.1:c.5124C>T NP_001373087.1:p.Asp1708=
NM_001386160.1:c.5634C>T NP_001373089.1:p.Asp1878=
NM_001386161.1:c.5541C>T NP_001373090.1:p.Asp1847=
NM_001386162.1:c.5256C>T NP_001373091.1:p.Asp1752=
NM_001386166.1:c.8262C>T NP_001373095.1:p.Asp2754=
NM_001386167.1:c.2283C>T NP_001373096.1:p.Asp761=
NM_001386174.1:c.12371C>T NP_001373103.1:p.Thr4124Ile
NM_001386175.1:c.12347C>T NP_001373104.1:p.Thr4116Ile
NM_001386186.2:c.5775C>T NP_001373115.1:p.Asp1925=
NM_001386187.2:c.5472C>T NP_001373116.1:p.Asp1824=
NM_020977.3:c.5607C>T NP_066187.2:p.Asp1869=
NM_020977.4:c.5607C>T NP_066187.2:p.Asp1869=
NM_020977.5:c.5607C>T NP_066187.2:p.Asp1869=
ENST00000264366.10:c.11763C>T ENSP00000264366.6:p.Asp3921=
ENST00000357077.8:c.11862C>T ENSP00000349588.4:p.Asp3954=
ENST00000394537.7:c.5607C>T ENSP00000378044.3:p.Asp1869=
ENST00000505342.5:c.3075C>T ENSP00000422498.1:p.Asp1025=
ENST00000505342.6:c.3177C>T ENSP00000422498.2:p.Asp1059=
ENST00000506344.5:c.411C>T
ENST00000506344.6:c.12371C>T ENSP00000422888.2:p.Thr4124Ile
ENST00000506722.5:c.5580C>T ENSP00000421067.1:p.Asp1860=
ENST00000509550.5:c.3135C>T ENSP00000426944.1:p.Asp1045=
ENST00000510275.6:c.1656C>T ENSP00000421023.2:p.Asp552=
ENST00000510275.7:c.1410C>T ENSP00000421023.3:p.Asp470=
ENST00000510275.8:c.2040C>T ENSP00000421023.4:p.Asp680=
ENST00000514167.1:c.186C>T
ENST00000514960.5:c.2887C>T
ENST00000612754.1:c.*3223C>T ENSP00000482888.1:n.*3223C>T
ENST00000671704.1:c.5421C>T ENSP00000500926.1:p.Asp1807=
ENST00000671727.1:c.5784C>T ENSP00000500102.1:p.Asp1928=
ENST00000671756.1:c.5280C>T ENSP00000500712.1:p.Asp1760=
ENST00000671762.1:c.5736C>T ENSP00000500954.1:p.Asp1912=
ENST00000671793.1:c.5820C>T ENSP00000499928.1:p.Asp1940=
ENST00000671809.1:c.11736C>T ENSP00000500872.1:p.Asp3912=
ENST00000671825.1:c.5544C>T ENSP00000500459.1:p.Asp1848=
ENST00000671854.1:c.5529C>T ENSP00000500833.1:p.Asp1843=
ENST00000671863.1:c.*1100C>T ENSP00000500855.1:n.*1100C>T
ENST00000671882.1:c.11613C>T ENSP00000499887.1:p.Asp3871=
ENST00000671893.1:c.5058C>T ENSP00000499986.1:p.Asp1686=
ENST00000671906.1:c.11676C>T ENSP00000499953.1:p.Asp3892=
ENST00000671951.1:c.5322C>T ENSP00000500528.1:p.Asp1774=
ENST00000671971.1:c.11907C>T ENSP00000499832.1:p.Asp3969=
ENST00000672045.1:c.5628C>T ENSP00000499959.1:p.Asp1876=
ENST00000672068.1:c.11793C>T ENSP00000499902.1:p.Asp3931=
ENST00000672088.1:c.5604C>T ENSP00000499837.1:p.Asp1868=
ENST00000672090.1:c.11700C>T ENSP00000500540.1:p.Asp3900=
ENST00000672177.1:c.5457C>T ENSP00000500918.1:p.Asp1819=
ENST00000672209.1:c.11976C>T ENSP00000499982.1:p.Asp3992=
ENST00000672221.1:c.5442C>T ENSP00000500473.1:p.Asp1814=
ENST00000672240.1:c.11943C>T ENSP00000500548.1:p.Asp3981=
ENST00000672246.1:c.5265C>T ENSP00000499990.1:p.Asp1755=
ENST00000672251.1:c.11664C>T ENSP00000500580.1:p.Asp3888=
ENST00000672312.1:c.5445C>T ENSP00000500378.1:p.Asp1815=
ENST00000672315.1:c.5295C>T ENSP00000500780.1:p.Asp1765=
ENST00000672350.1:c.5565C>T ENSP00000500420.1:p.Asp1855=
ENST00000672356.1:c.5505C>T ENSP00000500544.1:p.Asp1835=
ENST00000672362.1:c.5673C>T ENSP00000500522.1:p.Asp1891=
ENST00000672366.1:c.5508C>T ENSP00000500937.1:p.Asp1836=
ENST00000672402.1:c.5637C>T ENSP00000500881.1:p.Asp1879=
ENST00000672411.1:c.3006C>T ENSP00000499979.1:p.Asp1002=
ENST00000672502.1:c.11763C>T ENSP00000499870.1:p.Asp3921=
ENST00000672684.1:c.5346C>T ENSP00000499943.1:p.Asp1782=
ENST00000672696.1:c.5472C>T ENSP00000499828.1:p.Asp1824=
ENST00000672731.1:c.5256C>T ENSP00000500908.1:p.Asp1752=
ENST00000672759.1:c.5322C>T ENSP00000499881.1:p.Asp1774=
ENST00000672779.1:c.5652C>T ENSP00000499869.1:p.Asp1884=
ENST00000672793.1:c.5538C>T ENSP00000500150.1:p.Asp1846=
ENST00000672830.1:c.11799C>T ENSP00000500222.1:p.Asp3933=
ENST00000672854.1:c.5409C>T ENSP00000500311.1:p.Asp1803=
ENST00000672880.1:c.5628C>T ENSP00000500866.1:p.Asp1876=
ENST00000672915.1:c.2994C>T ENSP00000500622.1:p.Asp998=
ENST00000672930.1:c.11535C>T ENSP00000499913.1:p.Asp3845=
ENST00000672934.1:c.11601C>T ENSP00000500645.1:p.Asp3867=
ENST00000672955.1:c.5421C>T ENSP00000500527.1:p.Asp1807=
ENST00000672965.1:c.5481C>T ENSP00000499891.1:p.Asp1827=
ENST00000672986.1:c.5208C>T ENSP00000499967.1:p.Asp1736=
ENST00000672990.1:c.5664C>T ENSP00000500275.1:p.Asp1888=
ENST00000673044.1:c.5295C>T ENSP00000500933.1:p.Asp1765=
ENST00000673048.1:c.3156C>T ENSP00000500832.1:p.Asp1052=
ENST00000673109.1:c.11577C>T ENSP00000500265.1:p.Asp3859=
ENST00000673231.1:c.3171C>T ENSP00000500111.1:p.Asp1057=
ENST00000673240.1:c.5652C>T ENSP00000499996.1:p.Asp1884=
ENST00000673255.1:c.*41C>T ENSP00000500423.1:n.*41C>T
ENST00000673298.1:c.11883C>T ENSP00000500245.1:p.Asp3961=
ENST00000673334.1:c.11451C>T ENSP00000500854.1:p.Asp3817=
ENST00000673353.1:c.3318C>T ENSP00000500007.1:p.Asp1106=
ENST00000673363.1:c.11808C>T ENSP00000500539.1:p.Asp3936=
ENST00000673430.1:c.5721C>T ENSP00000500269.1:p.Asp1907=
ENST00000673453.1:c.5301C>T ENSP00000500112.1:p.Asp1767=
ENST00000673536.1:c.5115C>T ENSP00000500524.1:p.Asp1705=
ENST00000673538.1:c.*1100C>T ENSP00000500842.1:n.*1100C>T
ENST00000673546.1:c.5382C>T ENSP00000500843.1:p.Asp1794=
ENST00000673555.1:c.11628C>T ENSP00000500947.1:p.Asp3876=
ENST00000673573.1:c.11637C>T ENSP00000500883.1:p.Asp3879=
ENST00000681990.1:n.3244C>T
ENST00000682049.1:n.2452C>T
ENST00000682959.1:n.6480C>T
ENST00000683389.1:n.2240C>T
ENST00000683826.1:n.3738C>T
ENST00000683893.1:n.2151C>T
ENST00000683908.1:n.2361C>T
ENST00000683972.1:n.8707C>T
ENST00000684225.1:n.3333C>T
ENST00000684230.1:n.3475C>T
ENST00000684378.1:n.4601C>T
ENST00000684470.1:n.3844C>T
ENST00000684730.1:n.5250C>T
ENST00000705785.1:c.5688C>T ENSP00000516169.1:p.Asp1896=
XM_005262942.3:c.12263C>T XP_005262999.1:p.Thr4088Ile
XM_005262945.1:c.12038C>T XP_005263002.1:p.Thr4013Ile
XM_005262945.3:c.12038C>T XP_005263002.1:p.Thr4013Ile
XM_005262948.3:c.5879C>T XP_005263005.1:p.Thr1960Ile
XM_006714188.2:c.12317C>T XP_006714251.1:p.Thr4106Ile
XM_006714189.2:c.12281C>T XP_006714252.1:p.Thr4094Ile
XM_006714190.2:c.6029C>T XP_006714253.1:p.Thr2010Ile
XM_006714191.2:c.5969C>T XP_006714254.1:p.Thr1990Ile
XM_006714192.2:c.5901C>T XP_006714255.1:p.Asp1967=
XM_006714193.2:c.5694C>T XP_006714256.1:p.Asp1898=
XM_006714194.2:c.12257C>T XP_006714257.1:p.Thr4086Ile
XM_011531891.1:c.12302C>T XP_011530193.1:p.Thr4101Ile
XM_017008067.1:c.12371C>T XP_016863556.1:p.Thr4124Ile
XM_017008069.1:c.12347C>T XP_016863558.1:p.Thr4116Ile
XM_017008071.2:c.12257C>T XP_016863560.1:p.Thr4086Ile
XM_017008072.2:c.12233C>T XP_016863561.1:p.Thr4078Ile
XM_017008073.2:c.12230C>T XP_016863562.1:p.Thr4077Ile
XM_017008074.2:c.12203C>T XP_016863563.1:p.Thr4068Ile
XM_017008075.2:c.12167C>T XP_016863564.1:p.Thr4056Ile
XM_017008076.2:c.12137C>T XP_016863565.1:p.Thr4046Ile
XM_017008077.2:c.12044C>T XP_016863566.1:p.Thr4015Ile
XM_017008078.2:c.5882C>T XP_016863567.1:p.Thr1961Ile
XM_017008080.2:c.5732C>T XP_016863569.1:p.Thr1911Ile
XM_024454016.1:c.12266C>T XP_024309784.1:p.Thr4089Ile
XM_024454017.1:c.6011C>T XP_024309785.1:p.Thr2004Ile
XM_024454018.1:c.5876C>T XP_024309786.1:p.Thr1959Ile
XM_024454019.1:c.5861C>T XP_024309787.1:p.Thr1954Ile
XM_024454020.1:c.5783C>T XP_024309788.1:p.Thr1928Ile
XM_024454021.1:c.5780C>T XP_024309789.1:p.Thr1927Ile
XM_024454022.1:c.5720C>T XP_024309790.1:p.Thr1907Ile
XM_024454023.1:c.5582C>T XP_024309791.1:p.Thr1861Ile