Canonical Allele Identifier: CA300963
Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 190582
dbSNP Id: rs747961230

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.113369665C>G , CM000666.2:g.113369665C>G GRCh38
NC_000004.11:g.114290821C>G , CM000666.1:g.114290821C>G GRCh37
NC_000004.10:g.114510270C>G NCBI36
NG_009006.2:g.556583C>G , LRG_327:g.556583C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000506344.6:c.11611C>G ENSP00000422888.2:p.Pro3871Ala
ENST00000705785.1:c.5296C>G ENSP00000516169.1:p.Pro1766Ala
ENST00000510275.8:c.1897C>G ENSP00000421023.4:p.Pro633Ala
ENST00000612754.2:c.2395C>G ENSP00000482888.2:p.Pro799Ala
ENST00000681990.1:n.2852C>G
ENST00000682049.1:n.2060C>G
ENST00000682959.1:n.2804C>G
ENST00000683389.1:n.1633C>G
ENST00000683826.1:n.3595C>G
ENST00000683893.1:n.1576C>G
ENST00000683908.1:n.1969C>G
ENST00000683972.1:n.8315C>G
ENST00000684225.1:n.2941C>G
ENST00000684378.1:n.925C>G
ENST00000684470.1:n.3359C>G
ENST00000684730.1:n.1574C>G
ENST00000357077.9:c.11470C>G MANE Select ENSP00000349588.4:p.Pro3824Ala
ENST00000503423.6:c.11308C>G ENSP00000421011.2:p.Pro3770Ala
ENST00000505342.6:c.2602C>G ENSP00000422498.2:p.Pro868Ala
ENST00000510275.7:c.925C>G ENSP00000421023.3:p.Pro309Ala
ENST00000671704.1:c.5029C>G ENSP00000500926.1:p.Pro1677Ala
ENST00000671727.1:c.5116C>G ENSP00000500102.1:p.Pro1706Ala
ENST00000671756.1:c.5053C>G ENSP00000500712.1:p.Pro1685Ala
ENST00000671762.1:c.5251C>G ENSP00000500954.1:p.Pro1751Ala
ENST00000671793.1:c.5152C>G ENSP00000499928.1:p.Pro1718Ala
ENST00000671809.1:c.11344C>G ENSP00000500872.1:p.Pro3782Ala
ENST00000671825.1:c.5152C>G ENSP00000500459.1:p.Pro1718Ala
ENST00000671854.1:c.4954C>G ENSP00000500833.1:p.Pro1652Ala
ENST00000671863.1:c.*708C>G ENSP00000500855.1:n.*708C>G
ENST00000671882.1:c.11287C>G ENSP00000499887.1:p.Pro3763Ala
ENST00000671893.1:c.4831C>G ENSP00000499986.1:p.Pro1611Ala
ENST00000671906.1:c.11284C>G ENSP00000499953.1:p.Pro3762Ala
ENST00000671951.1:c.4930C>G ENSP00000500528.1:p.Pro1644Ala
ENST00000671971.1:c.11515C>G ENSP00000499832.1:p.Pro3839Ala
ENST00000672045.1:c.5053C>G ENSP00000499959.1:p.Pro1685Ala
ENST00000672068.1:c.11308C>G ENSP00000499902.1:p.Pro3770Ala
ENST00000672088.1:c.5029C>G ENSP00000499837.1:p.Pro1677Ala
ENST00000672090.1:c.11308C>G ENSP00000500540.1:p.Pro3770Ala
ENST00000672177.1:c.5065C>G ENSP00000500918.1:p.Pro1689Ala
ENST00000672209.1:c.11308C>G ENSP00000499982.1:p.Pro3770Ala
ENST00000672221.1:c.5050C>G ENSP00000500473.1:p.Pro1684Ala
ENST00000672240.1:c.11551C>G ENSP00000500548.1:p.Pro3851Ala
ENST00000672246.1:c.5038C>G ENSP00000499990.1:p.Pro1680Ala
ENST00000672251.1:c.11272C>G ENSP00000500580.1:p.Pro3758Ala
ENST00000672312.1:c.5053C>G ENSP00000500378.1:p.Pro1685Ala
ENST00000672315.1:c.5152C>G ENSP00000500780.1:p.Pro1718Ala
ENST00000672350.1:c.4990C>G ENSP00000500420.1:p.Pro1664Ala
ENST00000672356.1:c.4930C>G ENSP00000500544.1:p.Pro1644Ala
ENST00000672362.1:c.5188C>G ENSP00000500522.1:p.Pro1730Ala
ENST00000672366.1:c.5116C>G ENSP00000500937.1:p.Pro1706Ala
ENST00000672402.1:c.5152C>G ENSP00000500881.1:p.Pro1718Ala
ENST00000672411.1:c.2779C>G ENSP00000499979.1:p.Pro927Ala
ENST00000672502.1:c.11371C>G ENSP00000499870.1:p.Pro3791Ala
ENST00000672684.1:c.4954C>G ENSP00000499943.1:p.Pro1652Ala
ENST00000672696.1:c.5152C>G ENSP00000499828.1:p.Pro1718Ala
ENST00000672731.1:c.5029C>G ENSP00000500908.1:p.Pro1677Ala
ENST00000672759.1:c.4930C>G ENSP00000499881.1:p.Pro1644Ala
ENST00000672779.1:c.5260C>G ENSP00000499869.1:p.Pro1754Ala
ENST00000672793.1:c.5053C>G ENSP00000500150.1:p.Pro1685Ala
ENST00000672830.1:c.11407C>G ENSP00000500222.1:p.Pro3803Ala
ENST00000672854.1:c.5017C>G ENSP00000500311.1:p.Pro1673Ala
ENST00000672880.1:c.5053C>G ENSP00000500866.1:p.Pro1685Ala
ENST00000672915.1:c.2602C>G ENSP00000500622.1:p.Pro868Ala
ENST00000672930.1:c.11308C>G ENSP00000499913.1:p.Pro3770Ala
ENST00000672934.1:c.11209C>G ENSP00000500645.1:p.Pro3737Ala
ENST00000672955.1:c.5029C>G ENSP00000500527.1:p.Pro1677Ala
ENST00000672965.1:c.5089C>G ENSP00000499891.1:p.Pro1697Ala
ENST00000672986.1:c.4633C>G ENSP00000499967.1:p.Pro1545Ala
ENST00000672990.1:c.5089C>G ENSP00000500275.1:p.Pro1697Ala
ENST00000673044.1:c.5152C>G ENSP00000500933.1:p.Pro1718Ala
ENST00000673048.1:c.2764C>G ENSP00000500832.1:p.Pro922Ala
ENST00000673109.1:c.11185C>G ENSP00000500265.1:p.Pro3729Ala
ENST00000673231.1:c.2779C>G ENSP00000500111.1:p.Pro927Ala
ENST00000673240.1:c.5260C>G ENSP00000499996.1:p.Pro1754Ala
ENST00000673255.1:c.5053C>G ENSP00000500423.1:p.Pro1685Ala
ENST00000673298.1:c.11308C>G ENSP00000500245.1:p.Pro3770Ala
ENST00000673334.1:c.11308C>G ENSP00000500854.1:p.Pro3770Ala
ENST00000673353.1:c.2743C>G ENSP00000500007.1:p.Pro915Ala
ENST00000673363.1:c.11416C>G ENSP00000500539.1:p.Pro3806Ala
ENST00000673430.1:c.5053C>G ENSP00000500269.1:p.Pro1685Ala
ENST00000673453.1:c.4981C>G ENSP00000500112.1:p.Pro1661Ala
ENST00000673536.1:c.4723C>G ENSP00000500524.1:p.Pro1575Ala
ENST00000673538.1:c.*708C>G ENSP00000500842.1:n.*708C>G
ENST00000673546.1:c.4990C>G ENSP00000500843.1:p.Pro1664Ala
ENST00000673555.1:c.11308C>G ENSP00000500947.1:p.Pro3770Ala
ENST00000673573.1:c.11245C>G ENSP00000500883.1:p.Pro3749Ala
ENST00000264366.10:c.11371C>G ENSP00000264366.6:p.Pro3791Ala
ENST00000357077.8:c.11470C>G ENSP00000349588.4:p.Pro3824Ala
ENST00000394537.7:c.5215C>G ENSP00000378044.3:p.Pro1739Ala
ENST00000505342.5:c.2500C>G ENSP00000422498.1:p.Pro834Ala
ENST00000506722.5:c.5188C>G ENSP00000421067.1:p.Pro1730Ala
ENST00000509550.5:c.2743C>G ENSP00000426944.1:p.Pro915Ala
ENST00000510275.6:c.1171C>G ENSP00000421023.2:p.Pro391Ala
ENST00000514960.5:c.2219C>G
ENST00000612754.1:c.*2831C>G ENSP00000482888.1:n.*2831C>G
NM_001127493.1:c.5188C>G , LRG_327t2:c.5188C>G NP_001120965.1:p.Pro1730Ala
NM_001148.4:c.11470C>G , LRG_327t1:c.11470C>G NP_001139.3:p.Pro3824Ala
NM_020977.3:c.5215C>G NP_066187.2:p.Pro1739Ala
XM_005262942.3:c.11503C>G XP_005262999.1:p.Pro3835Ala
XM_005262945.1:c.11371C>G XP_005263002.1:p.Pro3791Ala
XM_005262948.3:c.5212C>G XP_005263005.1:p.Pro1738Ala
XM_006714188.2:c.11557C>G XP_006714251.1:p.Pro3853Ala
XM_006714189.2:c.11521C>G XP_006714252.1:p.Pro3841Ala
XM_006714190.2:c.5269C>G XP_006714253.1:p.Pro1757Ala
XM_006714191.2:c.5302C>G XP_006714254.1:p.Pro1768Ala
XM_006714192.2:c.5233C>G XP_006714255.1:p.Pro1745Ala
XM_006714193.2:c.5302C>G XP_006714256.1:p.Pro1768Ala
XM_006714194.2:c.11497C>G XP_006714257.1:p.Pro3833Ala
XM_011531891.1:c.11542C>G XP_011530193.1:p.Pro3848Ala
NM_001127493.2:c.5188C>G NP_001120965.1:p.Pro1730Ala
NM_001148.5:c.11470C>G NP_001139.3:p.Pro3824Ala
NM_001354225.1:c.5227C>G NP_001341154.1:p.Pro1743Ala
NM_001354228.1:c.5116C>G NP_001341157.1:p.Pro1706Ala
NM_001354230.1:c.5194C>G NP_001341159.1:p.Pro1732Ala
NM_001354231.1:c.5257C>G NP_001341160.1:p.Pro1753Ala
NM_001354232.1:c.5251C>G NP_001341161.1:p.Pro1751Ala
NM_001354235.1:c.5212C>G NP_001341164.1:p.Pro1738Ala
NM_001354236.1:c.5113C>G NP_001341165.1:p.Pro1705Ala
NM_001354237.1:c.5293C>G NP_001341166.1:p.Pro1765Ala
NM_001354239.1:c.5185C>G NP_001341168.1:p.Pro1729Ala
NM_001354240.1:c.5260C>G NP_001341169.1:p.Pro1754Ala
NM_001354241.1:c.5260C>G NP_001341170.1:p.Pro1754Ala
NM_001354242.1:c.5257C>G NP_001341171.1:p.Pro1753Ala
NM_001354243.1:c.5152C>G NP_001341172.1:p.Pro1718Ala
NM_001354244.1:c.5149C>G NP_001341173.1:p.Pro1717Ala
NM_001354245.1:c.5053C>G NP_001341174.1:p.Pro1685Ala
NM_001354246.1:c.5212C>G NP_001341175.1:p.Pro1738Ala
NM_001354249.1:c.5029C>G NP_001341178.1:p.Pro1677Ala
NM_001354252.1:c.5185C>G NP_001341181.1:p.Pro1729Ala
NM_001354253.1:c.4990C>G NP_001341182.1:p.Pro1664Ala
NM_001354254.1:c.5164C>G NP_001341183.1:p.Pro1722Ala
NM_001354255.1:c.5152C>G NP_001341184.1:p.Pro1718Ala
NM_001354256.1:c.5149C>G NP_001341185.1:p.Pro1717Ala
NM_001354257.1:c.4954C>G NP_001341186.1:p.Pro1652Ala
NM_001354258.1:c.5116C>G NP_001341187.1:p.Pro1706Ala
NM_001354260.1:c.4930C>G NP_001341189.1:p.Pro1644Ala
NM_001354261.1:c.5074C>G NP_001341190.1:p.Pro1692Ala
NM_001354262.1:c.5053C>G NP_001341191.1:p.Pro1685Ala
NM_001354264.1:c.5050C>G NP_001341193.1:p.Pro1684Ala
NM_001354265.1:c.5212C>G NP_001341194.1:p.Pro1738Ala
NM_001354266.1:c.5029C>G NP_001341195.1:p.Pro1677Ala
NM_001354267.1:c.5029C>G NP_001341196.1:p.Pro1677Ala
NM_001354268.1:c.5017C>G NP_001341197.1:p.Pro1673Ala
NM_001354269.1:c.5002C>G NP_001341198.1:p.Pro1668Ala
NM_001354270.1:c.4990C>G NP_001341199.1:p.Pro1664Ala
NM_001354271.1:c.4930C>G NP_001341200.1:p.Pro1644Ala
NM_001354272.1:c.5086C>G NP_001341201.1:p.Pro1696Ala
NM_001354273.1:c.4915C>G NP_001341202.1:p.Pro1639Ala
NM_001354274.1:c.4981C>G NP_001341203.1:p.Pro1661Ala
NM_001354275.1:c.5053C>G NP_001341204.1:p.Pro1685Ala
NM_001354276.1:c.5029C>G NP_001341205.1:p.Pro1677Ala
NM_001354277.1:c.4831C>G NP_001341206.1:p.Pro1611Ala
NM_001354278.1:c.2743C>G NP_001341207.1:p.Pro915Ala
NM_001354279.1:c.2779C>G NP_001341208.1:p.Pro927Ala
NM_001354280.1:c.2764C>G NP_001341209.1:p.Pro922Ala
NM_001354281.1:c.2743C>G NP_001341210.1:p.Pro915Ala
NM_001354282.1:c.2779C>G NP_001341211.1:p.Pro927Ala
NM_020977.4:c.5215C>G NP_066187.2:p.Pro1739Ala
XM_005262945.3:c.11371C>G XP_005263002.1:p.Pro3791Ala
XM_017008067.1:c.11611C>G XP_016863556.1:p.Pro3871Ala
XM_017008069.1:c.11587C>G XP_016863558.1:p.Pro3863Ala
XM_017008071.2:c.11497C>G XP_016863560.1:p.Pro3833Ala
XM_017008072.2:c.11473C>G XP_016863561.1:p.Pro3825Ala
XM_017008073.2:c.11470C>G XP_016863562.1:p.Pro3824Ala
XM_017008074.2:c.11443C>G XP_016863563.1:p.Pro3815Ala
XM_017008075.2:c.11407C>G XP_016863564.1:p.Pro3803Ala
XM_017008076.2:c.11470C>G XP_016863565.1:p.Pro3824Ala
XM_017008077.2:c.11284C>G XP_016863566.1:p.Pro3762Ala
XM_017008078.2:c.5215C>G XP_016863567.1:p.Pro1739Ala
XM_017008080.2:c.5065C>G XP_016863569.1:p.Pro1689Ala
XM_024454016.1:c.11506C>G XP_024309784.1:p.Pro3836Ala
XM_024454017.1:c.5251C>G XP_024309785.1:p.Pro1751Ala
XM_024454018.1:c.5116C>G XP_024309786.1:p.Pro1706Ala
XM_024454019.1:c.5194C>G XP_024309787.1:p.Pro1732Ala
XM_024454020.1:c.5116C>G XP_024309788.1:p.Pro1706Ala
XM_024454021.1:c.5113C>G XP_024309789.1:p.Pro1705Ala
XM_024454022.1:c.5053C>G XP_024309790.1:p.Pro1685Ala
XM_024454023.1:c.4915C>G XP_024309791.1:p.Pro1639Ala
NM_001148.6:c.11470C>G MANE Select NP_001139.3:p.Pro3824Ala
NM_001127493.3:c.5188C>G NP_001120965.1:p.Pro1730Ala
NM_001354225.2:c.5227C>G NP_001341154.1:p.Pro1743Ala
NM_001354228.2:c.5116C>G NP_001341157.1:p.Pro1706Ala
NM_001354230.2:c.5194C>G NP_001341159.1:p.Pro1732Ala
NM_001354231.2:c.5257C>G NP_001341160.1:p.Pro1753Ala
NM_001354232.2:c.5251C>G NP_001341161.1:p.Pro1751Ala
NM_001354235.2:c.5212C>G NP_001341164.1:p.Pro1738Ala
NM_001354236.2:c.5113C>G NP_001341165.1:p.Pro1705Ala
NM_001354237.2:c.5293C>G NP_001341166.1:p.Pro1765Ala
NM_001354239.2:c.5185C>G NP_001341168.1:p.Pro1729Ala
NM_001354240.2:c.5260C>G NP_001341169.1:p.Pro1754Ala
NM_001354241.2:c.5260C>G NP_001341170.1:p.Pro1754Ala
NM_001354242.2:c.5257C>G NP_001341171.1:p.Pro1753Ala
NM_001354243.2:c.5152C>G NP_001341172.1:p.Pro1718Ala
NM_001354244.2:c.5149C>G NP_001341173.1:p.Pro1717Ala
NM_001354245.2:c.5053C>G NP_001341174.1:p.Pro1685Ala
NM_001354246.2:c.5212C>G NP_001341175.1:p.Pro1738Ala
NM_001354249.2:c.5029C>G NP_001341178.1:p.Pro1677Ala
NM_001354252.2:c.5185C>G NP_001341181.1:p.Pro1729Ala
NM_001354253.2:c.4990C>G NP_001341182.1:p.Pro1664Ala
NM_001354254.2:c.5164C>G NP_001341183.1:p.Pro1722Ala
NM_001354255.2:c.5152C>G NP_001341184.1:p.Pro1718Ala
NM_001354256.2:c.5149C>G NP_001341185.1:p.Pro1717Ala
NM_001354257.2:c.4954C>G NP_001341186.1:p.Pro1652Ala
NM_001354258.2:c.5116C>G NP_001341187.1:p.Pro1706Ala
NM_001354260.2:c.4930C>G NP_001341189.1:p.Pro1644Ala
NM_001354261.2:c.5074C>G NP_001341190.1:p.Pro1692Ala
NM_001354262.2:c.5053C>G NP_001341191.1:p.Pro1685Ala
NM_001354264.2:c.5050C>G NP_001341193.1:p.Pro1684Ala
NM_001354265.2:c.5212C>G NP_001341194.1:p.Pro1738Ala
NM_001354266.2:c.5029C>G NP_001341195.1:p.Pro1677Ala
NM_001354267.2:c.5029C>G NP_001341196.1:p.Pro1677Ala
NM_001354268.2:c.5017C>G NP_001341197.1:p.Pro1673Ala
NM_001354269.3:c.5002C>G NP_001341198.1:p.Pro1668Ala
NM_001354270.2:c.4990C>G NP_001341199.1:p.Pro1664Ala
NM_001354271.2:c.4930C>G NP_001341200.1:p.Pro1644Ala
NM_001354272.2:c.5086C>G NP_001341201.1:p.Pro1696Ala
NM_001354273.2:c.4915C>G NP_001341202.1:p.Pro1639Ala
NM_001354274.2:c.4981C>G NP_001341203.1:p.Pro1661Ala
NM_001354275.2:c.5053C>G NP_001341204.1:p.Pro1685Ala
NM_001354276.2:c.5029C>G NP_001341205.1:p.Pro1677Ala
NM_001354277.2:c.4831C>G NP_001341206.1:p.Pro1611Ala
NM_001354278.2:c.2743C>G NP_001341207.1:p.Pro915Ala
NM_001354279.2:c.2779C>G NP_001341208.1:p.Pro927Ala
NM_001354280.2:c.2764C>G NP_001341209.1:p.Pro922Ala
NM_001354281.2:c.2743C>G NP_001341210.1:p.Pro915Ala
NM_001354282.2:c.2779C>G NP_001341211.1:p.Pro927Ala
NM_001386142.1:c.11236C>G NP_001373071.1:p.Pro3746Ala
NM_001386143.1:c.5152C>G NP_001373072.1:p.Pro1718Ala
NM_001386144.1:c.5260C>G NP_001373073.1:p.Pro1754Ala
NM_001386146.1:c.4996C>G NP_001373075.1:p.Pro1666Ala
NM_001386147.1:c.5041C>G NP_001373076.1:p.Pro1681Ala
NM_001386148.2:c.5200C>G NP_001373077.1:p.Pro1734Ala
NM_001386149.1:c.4996C>G NP_001373078.1:p.Pro1666Ala
NM_001386150.1:c.4996C>G NP_001373079.1:p.Pro1666Ala
NM_001386151.1:c.4930C>G NP_001373080.1:p.Pro1644Ala
NM_001386152.1:c.5272C>G NP_001373081.1:p.Pro1758Ala
NM_001386153.1:c.4996C>G NP_001373082.1:p.Pro1666Ala
NM_001386154.1:c.4981C>G NP_001373083.1:p.Pro1661Ala
NM_001386156.1:c.4954C>G NP_001373085.1:p.Pro1652Ala
NM_001386157.1:c.4831C>G NP_001373086.1:p.Pro1611Ala
NM_001386158.1:c.4732C>G NP_001373087.1:p.Pro1578Ala
NM_001386160.1:c.5059C>G NP_001373089.1:p.Pro1687Ala
NM_001386161.1:c.5149C>G NP_001373090.1:p.Pro1717Ala
NM_001386162.1:c.5029C>G NP_001373091.1:p.Pro1677Ala
NM_001386166.1:c.7870C>G NP_001373095.1:p.Pro2624Ala
NM_001386167.1:c.1615C>G NP_001373096.1:p.Pro539Ala
NM_001386174.1:c.11611C>G NP_001373103.1:p.Pro3871Ala
NM_001386175.1:c.11587C>G NP_001373104.1:p.Pro3863Ala
NM_001386186.2:c.5200C>G NP_001373115.1:p.Pro1734Ala
NM_001386187.2:c.5080C>G NP_001373116.1:p.Pro1694Ala
NM_020977.5:c.5215C>G NP_066187.2:p.Pro1739Ala