Canonical Allele Identifier: CA3052348

Gene: ANK2

Linked Data

• ClinVar Variation Id: 347349
• ClinVar RCV Id: RCV000351944 ; RCV003168527
• dbSNP Id: rs768664692
• ExAC: 4:114294321 G / T
• gnomAD v2: 4-114294321-G-T
• gnomAD v4: 4-113373165-G-T
• MyVariant Identifiers: chr4:g.114294321G>T (hg19) ; chr4:g.113373165G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.113373165G>T , CM000666.2:g.113373165G>T	GRCh38
NC_000004.11:g.114294321G>T , CM000666.1:g.114294321G>T	GRCh37
NC_000004.10:g.114513770G>T	NCBI36
NG_009006.2:g.560083G>T , LRG_327:g.560083G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506344.6:c.11920G>T	ENSP00000422888.2:p.Val3974Leu
ENST00000705785.1:c.5512G>T	ENSP00000516169.1:p.Val1838Leu
ENST00000510275.8:c.2037+3360G>T	ENSP00000421023.4:n.2037+3360G>T
ENST00000612754.2:c.2611G>T	ENSP00000482888.2:p.Val871Leu
ENST00000681990.1:n.3068G>T
ENST00000682049.1:n.2276G>T
ENST00000682959.1:n.6304G>T
ENST00000683389.1:n.1849G>T
ENST00000683777.1:n.2489G>T
ENST00000683826.1:n.3735+3360G>T
ENST00000683893.1:n.1792G>T
ENST00000683908.1:n.2185G>T
ENST00000683972.1:n.8531G>T
ENST00000684225.1:n.3157G>T
ENST00000684230.1:n.3464G>T
ENST00000684378.1:n.4425G>T
ENST00000684470.1:n.3668G>T
ENST00000684730.1:n.5074G>T
ENST00000357077.9:c.11686G>T MANE Select	ENSP00000349588.4:p.Val3896Leu
ENST00000503423.6:c.11524G>T	ENSP00000421011.2:p.Val3842Leu
ENST00000505342.6:c.2818G>T	ENSP00000422498.2:p.Val940Leu
ENST00000510275.7:c.1234G>T	ENSP00000421023.3:p.Val412Leu
ENST00000671704.1:c.5245G>T	ENSP00000500926.1:p.Val1749Leu
ENST00000671727.1:c.5425G>T	ENSP00000500102.1:p.Val1809Leu
ENST00000671756.1:c.5269G>T	ENSP00000500712.1:p.Val1757Leu
ENST00000671762.1:c.5560G>T	ENSP00000500954.1:p.Val1854Leu
ENST00000671793.1:c.5461G>T	ENSP00000499928.1:p.Val1821Leu
ENST00000671809.1:c.11560G>T	ENSP00000500872.1:p.Val3854Leu
ENST00000671825.1:c.5368G>T	ENSP00000500459.1:p.Val1790Leu
ENST00000671854.1:c.5170G>T	ENSP00000500833.1:p.Val1724Leu
ENST00000671863.1:c.*924G>T	ENSP00000500855.1:n.*924G>T
ENST00000671882.1:c.11428-1599G>T	ENSP00000499887.1:n.11428-1599G>T
ENST00000671893.1:c.5047G>T	ENSP00000499986.1:p.Val1683Leu
ENST00000671906.1:c.11500G>T	ENSP00000499953.1:p.Val3834Leu
ENST00000671951.1:c.5146G>T	ENSP00000500528.1:p.Val1716Leu
ENST00000671971.1:c.11731G>T	ENSP00000499832.1:p.Val3911Leu
ENST00000672045.1:c.5269G>T	ENSP00000499959.1:p.Val1757Leu
ENST00000672068.1:c.11617G>T	ENSP00000499902.1:p.Val3873Leu
ENST00000672088.1:c.5245G>T	ENSP00000499837.1:p.Val1749Leu
ENST00000672090.1:c.11524G>T	ENSP00000500540.1:p.Val3842Leu
ENST00000672177.1:c.5281G>T	ENSP00000500918.1:p.Val1761Leu
ENST00000672209.1:c.11617G>T	ENSP00000499982.1:p.Val3873Leu
ENST00000672221.1:c.5266G>T	ENSP00000500473.1:p.Val1756Leu
ENST00000672240.1:c.11767G>T	ENSP00000500548.1:p.Val3923Leu
ENST00000672246.1:c.5254G>T	ENSP00000499990.1:p.Val1752Leu
ENST00000672251.1:c.11488G>T	ENSP00000500580.1:p.Val3830Leu
ENST00000672312.1:c.5269G>T	ENSP00000500378.1:p.Val1757Leu
ENST00000672315.1:c.5292+3360G>T	ENSP00000500780.1:n.5292+3360G>T
ENST00000672350.1:c.5206G>T	ENSP00000500420.1:p.Val1736Leu
ENST00000672356.1:c.5146G>T	ENSP00000500544.1:p.Val1716Leu
ENST00000672362.1:c.5497G>T	ENSP00000500522.1:p.Val1833Leu
ENST00000672366.1:c.5332G>T	ENSP00000500937.1:p.Val1778Leu
ENST00000672402.1:c.5461G>T	ENSP00000500881.1:p.Val1821Leu
ENST00000672411.1:c.2995G>T	ENSP00000499979.1:p.Val999Leu
ENST00000672502.1:c.11587G>T	ENSP00000499870.1:p.Val3863Leu
ENST00000672684.1:c.5170G>T	ENSP00000499943.1:p.Val1724Leu
ENST00000672696.1:c.5461G>T	ENSP00000499828.1:p.Val1821Leu
ENST00000672731.1:c.5245G>T	ENSP00000500908.1:p.Val1749Leu
ENST00000672759.1:c.5146G>T	ENSP00000499881.1:p.Val1716Leu
ENST00000672779.1:c.5476G>T	ENSP00000499869.1:p.Val1826Leu
ENST00000672793.1:c.5362G>T	ENSP00000500150.1:p.Val1788Leu
ENST00000672830.1:c.11623G>T	ENSP00000500222.1:p.Val3875Leu
ENST00000672854.1:c.5233G>T	ENSP00000500311.1:p.Val1745Leu
ENST00000672880.1:c.5269G>T	ENSP00000500866.1:p.Val1757Leu
ENST00000672915.1:c.2818G>T	ENSP00000500622.1:p.Val940Leu
ENST00000672930.1:c.11524G>T	ENSP00000499913.1:p.Val3842Leu
ENST00000672934.1:c.11425G>T	ENSP00000500645.1:p.Val3809Leu
ENST00000672955.1:c.5245G>T	ENSP00000500527.1:p.Val1749Leu
ENST00000672965.1:c.5305G>T	ENSP00000499891.1:p.Val1769Leu
ENST00000672986.1:c.4849G>T	ENSP00000499967.1:p.Val1617Leu
ENST00000672990.1:c.5305G>T	ENSP00000500275.1:p.Val1769Leu
ENST00000673044.1:c.5292+3360G>T	ENSP00000500933.1:n.5292+3360G>T
ENST00000673048.1:c.2980G>T	ENSP00000500832.1:p.Val994Leu
ENST00000673109.1:c.11401G>T	ENSP00000500265.1:p.Val3801Leu
ENST00000673231.1:c.2995G>T	ENSP00000500111.1:p.Val999Leu
ENST00000673240.1:c.5476G>T	ENSP00000499996.1:p.Val1826Leu
ENST00000673255.1:c.5269G>T	ENSP00000500423.1:p.Val1757Leu
ENST00000673298.1:c.11524G>T	ENSP00000500245.1:p.Val3842Leu
ENST00000673334.1:c.11448+3360G>T	ENSP00000500854.1:n.11448+3360G>T
ENST00000673353.1:c.2959G>T	ENSP00000500007.1:p.Val987Leu
ENST00000673363.1:c.11632G>T	ENSP00000500539.1:p.Val3878Leu
ENST00000673430.1:c.5362G>T	ENSP00000500269.1:p.Val1788Leu
ENST00000673453.1:c.5290G>T	ENSP00000500112.1:p.Val1764Leu
ENST00000673536.1:c.4939G>T	ENSP00000500524.1:p.Val1647Leu
ENST00000673538.1:c.*924G>T	ENSP00000500842.1:n.*924G>T
ENST00000673546.1:c.5206G>T	ENSP00000500843.1:p.Val1736Leu
ENST00000673555.1:c.11617G>T	ENSP00000500947.1:p.Val3873Leu
ENST00000673573.1:c.11461G>T	ENSP00000500883.1:p.Val3821Leu
ENST00000264366.10:c.11587G>T	ENSP00000264366.6:p.Val3863Leu
ENST00000357077.8:c.11686G>T	ENSP00000349588.4:p.Val3896Leu
ENST00000394537.7:c.5431G>T	ENSP00000378044.3:p.Val1811Leu
ENST00000505342.5:c.2716G>T	ENSP00000422498.1:p.Val906Leu
ENST00000506722.5:c.5404G>T	ENSP00000421067.1:p.Val1802Leu
ENST00000509550.5:c.2959G>T	ENSP00000426944.1:p.Val987Leu
ENST00000510275.6:c.1480G>T	ENSP00000421023.2:p.Val494Leu
ENST00000514960.5:c.2528G>T
ENST00000612754.1:c.*3047G>T	ENSP00000482888.1:n.*3047G>T
NM_001127493.1:c.5404G>T , LRG_327t2:c.5404G>T	NP_001120965.1:p.Val1802Leu
NM_001148.4:c.11686G>T , LRG_327t1:c.11686G>T	NP_001139.3:p.Val3896Leu
NM_020977.3:c.5431G>T	NP_066187.2:p.Val1811Leu
XM_005262942.3:c.11812G>T	XP_005262999.1:p.Val3938Leu
XM_005262945.1:c.11587G>T	XP_005263002.1:p.Val3863Leu
XM_005262948.3:c.5428G>T	XP_005263005.1:p.Val1810Leu
XM_006714188.2:c.11866G>T	XP_006714251.1:p.Val3956Leu
XM_006714189.2:c.11830G>T	XP_006714252.1:p.Val3944Leu
XM_006714190.2:c.5578G>T	XP_006714253.1:p.Val1860Leu
XM_006714191.2:c.5518G>T	XP_006714254.1:p.Val1840Leu
XM_006714192.2:c.5542G>T	XP_006714255.1:p.Val1848Leu
XM_006714193.2:c.5518G>T	XP_006714256.1:p.Val1840Leu
XM_006714194.2:c.11806G>T	XP_006714257.1:p.Val3936Leu
XM_011531891.1:c.11851G>T	XP_011530193.1:p.Val3951Leu
NM_001127493.2:c.5404G>T	NP_001120965.1:p.Val1802Leu
NM_001148.5:c.11686G>T	NP_001139.3:p.Val3896Leu
NM_001354225.1:c.5443G>T	NP_001341154.1:p.Val1815Leu
NM_001354228.1:c.5425G>T	NP_001341157.1:p.Val1809Leu
NM_001354230.1:c.5410G>T	NP_001341159.1:p.Val1804Leu
NM_001354231.1:c.5566G>T	NP_001341160.1:p.Val1856Leu
NM_001354232.1:c.5560G>T	NP_001341161.1:p.Val1854Leu
NM_001354235.1:c.5521G>T	NP_001341164.1:p.Val1841Leu
NM_001354236.1:c.5329G>T	NP_001341165.1:p.Val1777Leu
NM_001354237.1:c.5509G>T	NP_001341166.1:p.Val1837Leu
NM_001354239.1:c.5494G>T	NP_001341168.1:p.Val1832Leu
NM_001354240.1:c.5476G>T	NP_001341169.1:p.Val1826Leu
NM_001354241.1:c.5476G>T	NP_001341170.1:p.Val1826Leu
NM_001354242.1:c.5473G>T	NP_001341171.1:p.Val1825Leu
NM_001354243.1:c.5461G>T	NP_001341172.1:p.Val1821Leu
NM_001354244.1:c.5458G>T	NP_001341173.1:p.Val1820Leu
NM_001354245.1:c.5269G>T	NP_001341174.1:p.Val1757Leu
NM_001354246.1:c.5428G>T	NP_001341175.1:p.Val1810Leu
NM_001354249.1:c.5245G>T	NP_001341178.1:p.Val1749Leu
NM_001354252.1:c.5401G>T	NP_001341181.1:p.Val1801Leu
NM_001354253.1:c.5206G>T	NP_001341182.1:p.Val1736Leu
NM_001354254.1:c.5380G>T	NP_001341183.1:p.Val1794Leu
NM_001354255.1:c.5368G>T	NP_001341184.1:p.Val1790Leu
NM_001354256.1:c.5365G>T	NP_001341185.1:p.Val1789Leu
NM_001354257.1:c.5170G>T	NP_001341186.1:p.Val1724Leu
NM_001354258.1:c.5332G>T	NP_001341187.1:p.Val1778Leu
NM_001354260.1:c.5146G>T	NP_001341189.1:p.Val1716Leu
NM_001354261.1:c.5290G>T	NP_001341190.1:p.Val1764Leu
NM_001354262.1:c.5269G>T	NP_001341191.1:p.Val1757Leu
NM_001354264.1:c.5266G>T	NP_001341193.1:p.Val1756Leu
NM_001354265.1:c.5428G>T	NP_001341194.1:p.Val1810Leu
NM_001354266.1:c.5245G>T	NP_001341195.1:p.Val1749Leu
NM_001354267.1:c.5245G>T	NP_001341196.1:p.Val1749Leu
NM_001354268.1:c.5233G>T	NP_001341197.1:p.Val1745Leu
NM_001354269.1:c.5218G>T	NP_001341198.1:p.Val1740Leu
NM_001354270.1:c.5206G>T	NP_001341199.1:p.Val1736Leu
NM_001354271.1:c.5146G>T	NP_001341200.1:p.Val1716Leu
NM_001354272.1:c.5302G>T	NP_001341201.1:p.Val1768Leu
NM_001354273.1:c.5131G>T	NP_001341202.1:p.Val1711Leu
NM_001354274.1:c.5290G>T	NP_001341203.1:p.Val1764Leu
NM_001354275.1:c.5269G>T	NP_001341204.1:p.Val1757Leu
NM_001354276.1:c.5245G>T	NP_001341205.1:p.Val1749Leu
NM_001354277.1:c.5047G>T	NP_001341206.1:p.Val1683Leu
NM_001354278.1:c.2959G>T	NP_001341207.1:p.Val987Leu
NM_001354279.1:c.2995G>T	NP_001341208.1:p.Val999Leu
NM_001354280.1:c.2980G>T	NP_001341209.1:p.Val994Leu
NM_001354281.1:c.2959G>T	NP_001341210.1:p.Val987Leu
NM_001354282.1:c.2995G>T	NP_001341211.1:p.Val999Leu
NM_020977.4:c.5431G>T	NP_066187.2:p.Val1811Leu
XM_005262945.3:c.11587G>T	XP_005263002.1:p.Val3863Leu
XM_017008067.1:c.11920G>T	XP_016863556.1:p.Val3974Leu
XM_017008069.1:c.11896G>T	XP_016863558.1:p.Val3966Leu
XM_017008071.2:c.11806G>T	XP_016863560.1:p.Val3936Leu
XM_017008072.2:c.11782G>T	XP_016863561.1:p.Val3928Leu
XM_017008073.2:c.11779G>T	XP_016863562.1:p.Val3927Leu
XM_017008074.2:c.11752G>T	XP_016863563.1:p.Val3918Leu
XM_017008075.2:c.11716G>T	XP_016863564.1:p.Val3906Leu
XM_017008076.2:c.11686G>T	XP_016863565.1:p.Val3896Leu
XM_017008077.2:c.11593G>T	XP_016863566.1:p.Val3865Leu
XM_017008078.2:c.5431G>T	XP_016863567.1:p.Val1811Leu
XM_017008080.2:c.5281G>T	XP_016863569.1:p.Val1761Leu
XM_024454016.1:c.11815G>T	XP_024309784.1:p.Val3939Leu
XM_024454017.1:c.5560G>T	XP_024309785.1:p.Val1854Leu
XM_024454018.1:c.5425G>T	XP_024309786.1:p.Val1809Leu
XM_024454019.1:c.5410G>T	XP_024309787.1:p.Val1804Leu
XM_024454020.1:c.5332G>T	XP_024309788.1:p.Val1778Leu
XM_024454021.1:c.5329G>T	XP_024309789.1:p.Val1777Leu
XM_024454022.1:c.5269G>T	XP_024309790.1:p.Val1757Leu
XM_024454023.1:c.5131G>T	XP_024309791.1:p.Val1711Leu
NM_001148.6:c.11686G>T MANE Select	NP_001139.3:p.Val3896Leu
NM_001127493.3:c.5404G>T	NP_001120965.1:p.Val1802Leu
NM_001354225.2:c.5443G>T	NP_001341154.1:p.Val1815Leu
NM_001354228.2:c.5425G>T	NP_001341157.1:p.Val1809Leu
NM_001354230.2:c.5410G>T	NP_001341159.1:p.Val1804Leu
NM_001354231.2:c.5566G>T	NP_001341160.1:p.Val1856Leu
NM_001354232.2:c.5560G>T	NP_001341161.1:p.Val1854Leu
NM_001354235.2:c.5521G>T	NP_001341164.1:p.Val1841Leu
NM_001354236.2:c.5329G>T	NP_001341165.1:p.Val1777Leu
NM_001354237.2:c.5509G>T	NP_001341166.1:p.Val1837Leu
NM_001354239.2:c.5494G>T	NP_001341168.1:p.Val1832Leu
NM_001354240.2:c.5476G>T	NP_001341169.1:p.Val1826Leu
NM_001354241.2:c.5476G>T	NP_001341170.1:p.Val1826Leu
NM_001354242.2:c.5473G>T	NP_001341171.1:p.Val1825Leu
NM_001354243.2:c.5461G>T	NP_001341172.1:p.Val1821Leu
NM_001354244.2:c.5458G>T	NP_001341173.1:p.Val1820Leu
NM_001354245.2:c.5269G>T	NP_001341174.1:p.Val1757Leu
NM_001354246.2:c.5428G>T	NP_001341175.1:p.Val1810Leu
NM_001354249.2:c.5245G>T	NP_001341178.1:p.Val1749Leu
NM_001354252.2:c.5401G>T	NP_001341181.1:p.Val1801Leu
NM_001354253.2:c.5206G>T	NP_001341182.1:p.Val1736Leu
NM_001354254.2:c.5380G>T	NP_001341183.1:p.Val1794Leu
NM_001354255.2:c.5368G>T	NP_001341184.1:p.Val1790Leu
NM_001354256.2:c.5365G>T	NP_001341185.1:p.Val1789Leu
NM_001354257.2:c.5170G>T	NP_001341186.1:p.Val1724Leu
NM_001354258.2:c.5332G>T	NP_001341187.1:p.Val1778Leu
NM_001354260.2:c.5146G>T	NP_001341189.1:p.Val1716Leu
NM_001354261.2:c.5290G>T	NP_001341190.1:p.Val1764Leu
NM_001354262.2:c.5269G>T	NP_001341191.1:p.Val1757Leu
NM_001354264.2:c.5266G>T	NP_001341193.1:p.Val1756Leu
NM_001354265.2:c.5428G>T	NP_001341194.1:p.Val1810Leu
NM_001354266.2:c.5245G>T	NP_001341195.1:p.Val1749Leu
NM_001354267.2:c.5245G>T	NP_001341196.1:p.Val1749Leu
NM_001354268.2:c.5233G>T	NP_001341197.1:p.Val1745Leu
NM_001354269.3:c.5218G>T	NP_001341198.1:p.Val1740Leu
NM_001354270.2:c.5206G>T	NP_001341199.1:p.Val1736Leu
NM_001354271.2:c.5146G>T	NP_001341200.1:p.Val1716Leu
NM_001354272.2:c.5302G>T	NP_001341201.1:p.Val1768Leu
NM_001354273.2:c.5131G>T	NP_001341202.1:p.Val1711Leu
NM_001354274.2:c.5290G>T	NP_001341203.1:p.Val1764Leu
NM_001354275.2:c.5269G>T	NP_001341204.1:p.Val1757Leu
NM_001354276.2:c.5245G>T	NP_001341205.1:p.Val1749Leu
NM_001354277.2:c.5047G>T	NP_001341206.1:p.Val1683Leu
NM_001354278.2:c.2959G>T	NP_001341207.1:p.Val987Leu
NM_001354279.2:c.2995G>T	NP_001341208.1:p.Val999Leu
NM_001354280.2:c.2980G>T	NP_001341209.1:p.Val994Leu
NM_001354281.2:c.2959G>T	NP_001341210.1:p.Val987Leu
NM_001354282.2:c.2995G>T	NP_001341211.1:p.Val999Leu
NM_001386142.1:c.11452G>T	NP_001373071.1:p.Val3818Leu
NM_001386143.1:c.5461G>T	NP_001373072.1:p.Val1821Leu
NM_001386144.1:c.5569G>T	NP_001373073.1:p.Val1857Leu
NM_001386146.1:c.5305G>T	NP_001373075.1:p.Val1769Leu
NM_001386147.1:c.5257G>T	NP_001373076.1:p.Val1753Leu
NM_001386148.2:c.5416G>T	NP_001373077.1:p.Val1806Leu
NM_001386149.1:c.5212G>T	NP_001373078.1:p.Val1738Leu
NM_001386150.1:c.5305G>T	NP_001373079.1:p.Val1769Leu
NM_001386151.1:c.5239G>T	NP_001373080.1:p.Val1747Leu
NM_001386152.1:c.5412+3360G>T	NP_001373081.1:n.5412+3360G>T
NM_001386153.1:c.5212G>T	NP_001373082.1:p.Val1738Leu
NM_001386154.1:c.5197G>T	NP_001373083.1:p.Val1733Leu
NM_001386156.1:c.5170G>T	NP_001373085.1:p.Val1724Leu
NM_001386157.1:c.5047G>T	NP_001373086.1:p.Val1683Leu
NM_001386158.1:c.4948G>T	NP_001373087.1:p.Val1650Leu
NM_001386160.1:c.5275G>T	NP_001373089.1:p.Val1759Leu
NM_001386161.1:c.5365G>T	NP_001373090.1:p.Val1789Leu
NM_001386162.1:c.5245G>T	NP_001373091.1:p.Val1749Leu
NM_001386166.1:c.8086G>T	NP_001373095.1:p.Val2696Leu
NM_001386167.1:c.1924G>T	NP_001373096.1:p.Val642Leu
NM_001386174.1:c.11920G>T	NP_001373103.1:p.Val3974Leu
NM_001386175.1:c.11896G>T	NP_001373104.1:p.Val3966Leu
NM_001386186.2:c.5416G>T	NP_001373115.1:p.Val1806Leu
NM_001386187.2:c.5296G>T	NP_001373116.1:p.Val1766Leu
NM_020977.5:c.5431G>T	NP_066187.2:p.Val1811Leu