Canonical Allele Identifier: CA300953

Gene: ANK2

Linked Data

• ClinVar Variation Id: 190580
• ClinVar RCV Id: RCV000243482 ; RCV000529321 ; RCV000786100 ; RCV001144040 ; RCV001804900 ; RCV003422063
• dbSNP Id: rs150808807
• ExAC: 4:114290705 A / G
• gnomAD v2: 4-114290705-A-G
• gnomAD v3: 4-113369549-A-G
• gnomAD v4: 4-113369549-A-G
• MyVariant Identifiers: chr4:g.114290705A>G (hg19) ; chr4:g.113369549A>G (hg38)
• PubMed: PMID:26159999

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.113369549A>G , CM000666.2:g.113369549A>G	GRCh38
NC_000004.11:g.114290705A>G , CM000666.1:g.114290705A>G	GRCh37
NC_000004.10:g.114510154A>G	NCBI36
NG_009006.2:g.556467A>G , LRG_327:g.556467A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000506344.6:c.11495A>G	ENSP00000422888.2:p.Gln3832Arg
ENST00000705785.1:c.5180A>G	ENSP00000516169.1:p.Gln1727Arg
ENST00000510275.8:c.1781A>G	ENSP00000421023.4:p.Gln594Arg
ENST00000612754.2:c.2279A>G	ENSP00000482888.2:p.Gln760Arg
ENST00000681990.1:n.2736A>G
ENST00000682049.1:n.1944A>G
ENST00000682959.1:n.2688A>G
ENST00000683389.1:n.1517A>G
ENST00000683826.1:n.3479A>G
ENST00000683893.1:n.1460A>G
ENST00000683908.1:n.1853A>G
ENST00000683972.1:n.8199A>G
ENST00000684225.1:n.2825A>G
ENST00000684378.1:n.809A>G
ENST00000684470.1:n.3243A>G
ENST00000684730.1:n.1458A>G
ENST00000357077.9:c.11354A>G MANE Select	ENSP00000349588.4:p.Gln3785Arg
ENST00000503423.6:c.11192A>G	ENSP00000421011.2:p.Gln3731Arg
ENST00000505342.6:c.2486A>G	ENSP00000422498.2:p.Gln829Arg
ENST00000510275.7:c.809A>G	ENSP00000421023.3:p.Gln270Arg
ENST00000671704.1:c.4913A>G	ENSP00000500926.1:p.Gln1638Arg
ENST00000671727.1:c.5000A>G	ENSP00000500102.1:p.Gln1667Arg
ENST00000671756.1:c.4937A>G	ENSP00000500712.1:p.Gln1646Arg
ENST00000671762.1:c.5135A>G	ENSP00000500954.1:p.Gln1712Arg
ENST00000671793.1:c.5036A>G	ENSP00000499928.1:p.Gln1679Arg
ENST00000671809.1:c.11228A>G	ENSP00000500872.1:p.Gln3743Arg
ENST00000671825.1:c.5036A>G	ENSP00000500459.1:p.Gln1679Arg
ENST00000671854.1:c.4838A>G	ENSP00000500833.1:p.Gln1613Arg
ENST00000671863.1:c.*592A>G	ENSP00000500855.1:n.*592A>G
ENST00000671882.1:c.11171A>G	ENSP00000499887.1:p.Gln3724Arg
ENST00000671893.1:c.4715A>G	ENSP00000499986.1:p.Gln1572Arg
ENST00000671906.1:c.11168A>G	ENSP00000499953.1:p.Gln3723Arg
ENST00000671951.1:c.4814A>G	ENSP00000500528.1:p.Gln1605Arg
ENST00000671971.1:c.11399A>G	ENSP00000499832.1:p.Gln3800Arg
ENST00000672045.1:c.4937A>G	ENSP00000499959.1:p.Gln1646Arg
ENST00000672068.1:c.11192A>G	ENSP00000499902.1:p.Gln3731Arg
ENST00000672088.1:c.4913A>G	ENSP00000499837.1:p.Gln1638Arg
ENST00000672090.1:c.11192A>G	ENSP00000500540.1:p.Gln3731Arg
ENST00000672177.1:c.4949A>G	ENSP00000500918.1:p.Gln1650Arg
ENST00000672209.1:c.11192A>G	ENSP00000499982.1:p.Gln3731Arg
ENST00000672221.1:c.4934A>G	ENSP00000500473.1:p.Gln1645Arg
ENST00000672240.1:c.11435A>G	ENSP00000500548.1:p.Gln3812Arg
ENST00000672246.1:c.4922A>G	ENSP00000499990.1:p.Gln1641Arg
ENST00000672251.1:c.11156A>G	ENSP00000500580.1:p.Gln3719Arg
ENST00000672312.1:c.4937A>G	ENSP00000500378.1:p.Gln1646Arg
ENST00000672315.1:c.5036A>G	ENSP00000500780.1:p.Gln1679Arg
ENST00000672350.1:c.4874A>G	ENSP00000500420.1:p.Gln1625Arg
ENST00000672356.1:c.4814A>G	ENSP00000500544.1:p.Gln1605Arg
ENST00000672362.1:c.5072A>G	ENSP00000500522.1:p.Gln1691Arg
ENST00000672366.1:c.5000A>G	ENSP00000500937.1:p.Gln1667Arg
ENST00000672402.1:c.5036A>G	ENSP00000500881.1:p.Gln1679Arg
ENST00000672411.1:c.2663A>G	ENSP00000499979.1:p.Gln888Arg
ENST00000672502.1:c.11255A>G	ENSP00000499870.1:p.Gln3752Arg
ENST00000672684.1:c.4838A>G	ENSP00000499943.1:p.Gln1613Arg
ENST00000672696.1:c.5036A>G	ENSP00000499828.1:p.Gln1679Arg
ENST00000672731.1:c.4913A>G	ENSP00000500908.1:p.Gln1638Arg
ENST00000672759.1:c.4814A>G	ENSP00000499881.1:p.Gln1605Arg
ENST00000672779.1:c.5144A>G	ENSP00000499869.1:p.Gln1715Arg
ENST00000672793.1:c.4937A>G	ENSP00000500150.1:p.Gln1646Arg
ENST00000672830.1:c.11291A>G	ENSP00000500222.1:p.Gln3764Arg
ENST00000672854.1:c.4901A>G	ENSP00000500311.1:p.Gln1634Arg
ENST00000672880.1:c.4937A>G	ENSP00000500866.1:p.Gln1646Arg
ENST00000672915.1:c.2486A>G	ENSP00000500622.1:p.Gln829Arg
ENST00000672930.1:c.11192A>G	ENSP00000499913.1:p.Gln3731Arg
ENST00000672934.1:c.11093A>G	ENSP00000500645.1:p.Gln3698Arg
ENST00000672955.1:c.4913A>G	ENSP00000500527.1:p.Gln1638Arg
ENST00000672965.1:c.4973A>G	ENSP00000499891.1:p.Gln1658Arg
ENST00000672986.1:c.4517A>G	ENSP00000499967.1:p.Gln1506Arg
ENST00000672990.1:c.4973A>G	ENSP00000500275.1:p.Gln1658Arg
ENST00000673044.1:c.5036A>G	ENSP00000500933.1:p.Gln1679Arg
ENST00000673048.1:c.2648A>G	ENSP00000500832.1:p.Gln883Arg
ENST00000673109.1:c.11069A>G	ENSP00000500265.1:p.Gln3690Arg
ENST00000673231.1:c.2663A>G	ENSP00000500111.1:p.Gln888Arg
ENST00000673240.1:c.5144A>G	ENSP00000499996.1:p.Gln1715Arg
ENST00000673255.1:c.4937A>G	ENSP00000500423.1:p.Gln1646Arg
ENST00000673298.1:c.11192A>G	ENSP00000500245.1:p.Gln3731Arg
ENST00000673334.1:c.11192A>G	ENSP00000500854.1:p.Gln3731Arg
ENST00000673353.1:c.2627A>G	ENSP00000500007.1:p.Gln876Arg
ENST00000673363.1:c.11300A>G	ENSP00000500539.1:p.Gln3767Arg
ENST00000673430.1:c.4937A>G	ENSP00000500269.1:p.Gln1646Arg
ENST00000673453.1:c.4865A>G	ENSP00000500112.1:p.Gln1622Arg
ENST00000673536.1:c.4607A>G	ENSP00000500524.1:p.Gln1536Arg
ENST00000673538.1:c.*592A>G	ENSP00000500842.1:n.*592A>G
ENST00000673546.1:c.4874A>G	ENSP00000500843.1:p.Gln1625Arg
ENST00000673555.1:c.11192A>G	ENSP00000500947.1:p.Gln3731Arg
ENST00000673573.1:c.11129A>G	ENSP00000500883.1:p.Gln3710Arg
ENST00000264366.10:c.11255A>G	ENSP00000264366.6:p.Gln3752Arg
ENST00000357077.8:c.11354A>G	ENSP00000349588.4:p.Gln3785Arg
ENST00000394537.7:c.5099A>G	ENSP00000378044.3:p.Gln1700Arg
ENST00000505342.5:c.2384A>G	ENSP00000422498.1:p.Gln795Arg
ENST00000506722.5:c.5072A>G	ENSP00000421067.1:p.Gln1691Arg
ENST00000509550.5:c.2627A>G	ENSP00000426944.1:p.Gln876Arg
ENST00000510275.6:c.1055A>G	ENSP00000421023.2:p.Gln352Arg
ENST00000514960.5:c.2103A>G
ENST00000612754.1:c.*2715A>G	ENSP00000482888.1:n.*2715A>G
NM_001127493.1:c.5072A>G , LRG_327t2:c.5072A>G	NP_001120965.1:p.Gln1691Arg
NM_001148.4:c.11354A>G , LRG_327t1:c.11354A>G	NP_001139.3:p.Gln3785Arg
NM_020977.3:c.5099A>G	NP_066187.2:p.Gln1700Arg
XM_005262942.3:c.11387A>G	XP_005262999.1:p.Gln3796Arg
XM_005262945.1:c.11255A>G	XP_005263002.1:p.Gln3752Arg
XM_005262948.3:c.5096A>G	XP_005263005.1:p.Gln1699Arg
XM_006714188.2:c.11441A>G	XP_006714251.1:p.Gln3814Arg
XM_006714189.2:c.11405A>G	XP_006714252.1:p.Gln3802Arg
XM_006714190.2:c.5153A>G	XP_006714253.1:p.Gln1718Arg
XM_006714191.2:c.5186A>G	XP_006714254.1:p.Gln1729Arg
XM_006714192.2:c.5117A>G	XP_006714255.1:p.Gln1706Arg
XM_006714193.2:c.5186A>G	XP_006714256.1:p.Gln1729Arg
XM_006714194.2:c.11381A>G	XP_006714257.1:p.Gln3794Arg
XM_011531891.1:c.11426A>G	XP_011530193.1:p.Gln3809Arg
NM_001127493.2:c.5072A>G	NP_001120965.1:p.Gln1691Arg
NM_001148.5:c.11354A>G	NP_001139.3:p.Gln3785Arg
NM_001354225.1:c.5111A>G	NP_001341154.1:p.Gln1704Arg
NM_001354228.1:c.5000A>G	NP_001341157.1:p.Gln1667Arg
NM_001354230.1:c.5078A>G	NP_001341159.1:p.Gln1693Arg
NM_001354231.1:c.5141A>G	NP_001341160.1:p.Gln1714Arg
NM_001354232.1:c.5135A>G	NP_001341161.1:p.Gln1712Arg
NM_001354235.1:c.5096A>G	NP_001341164.1:p.Gln1699Arg
NM_001354236.1:c.4997A>G	NP_001341165.1:p.Gln1666Arg
NM_001354237.1:c.5177A>G	NP_001341166.1:p.Gln1726Arg
NM_001354239.1:c.5069A>G	NP_001341168.1:p.Gln1690Arg
NM_001354240.1:c.5144A>G	NP_001341169.1:p.Gln1715Arg
NM_001354241.1:c.5144A>G	NP_001341170.1:p.Gln1715Arg
NM_001354242.1:c.5141A>G	NP_001341171.1:p.Gln1714Arg
NM_001354243.1:c.5036A>G	NP_001341172.1:p.Gln1679Arg
NM_001354244.1:c.5033A>G	NP_001341173.1:p.Gln1678Arg
NM_001354245.1:c.4937A>G	NP_001341174.1:p.Gln1646Arg
NM_001354246.1:c.5096A>G	NP_001341175.1:p.Gln1699Arg
NM_001354249.1:c.4913A>G	NP_001341178.1:p.Gln1638Arg
NM_001354252.1:c.5069A>G	NP_001341181.1:p.Gln1690Arg
NM_001354253.1:c.4874A>G	NP_001341182.1:p.Gln1625Arg
NM_001354254.1:c.5048A>G	NP_001341183.1:p.Gln1683Arg
NM_001354255.1:c.5036A>G	NP_001341184.1:p.Gln1679Arg
NM_001354256.1:c.5033A>G	NP_001341185.1:p.Gln1678Arg
NM_001354257.1:c.4838A>G	NP_001341186.1:p.Gln1613Arg
NM_001354258.1:c.5000A>G	NP_001341187.1:p.Gln1667Arg
NM_001354260.1:c.4814A>G	NP_001341189.1:p.Gln1605Arg
NM_001354261.1:c.4958A>G	NP_001341190.1:p.Gln1653Arg
NM_001354262.1:c.4937A>G	NP_001341191.1:p.Gln1646Arg
NM_001354264.1:c.4934A>G	NP_001341193.1:p.Gln1645Arg
NM_001354265.1:c.5096A>G	NP_001341194.1:p.Gln1699Arg
NM_001354266.1:c.4913A>G	NP_001341195.1:p.Gln1638Arg
NM_001354267.1:c.4913A>G	NP_001341196.1:p.Gln1638Arg
NM_001354268.1:c.4901A>G	NP_001341197.1:p.Gln1634Arg
NM_001354269.1:c.4886A>G	NP_001341198.1:p.Gln1629Arg
NM_001354270.1:c.4874A>G	NP_001341199.1:p.Gln1625Arg
NM_001354271.1:c.4814A>G	NP_001341200.1:p.Gln1605Arg
NM_001354272.1:c.4970A>G	NP_001341201.1:p.Gln1657Arg
NM_001354273.1:c.4799A>G	NP_001341202.1:p.Gln1600Arg
NM_001354274.1:c.4865A>G	NP_001341203.1:p.Gln1622Arg
NM_001354275.1:c.4937A>G	NP_001341204.1:p.Gln1646Arg
NM_001354276.1:c.4913A>G	NP_001341205.1:p.Gln1638Arg
NM_001354277.1:c.4715A>G	NP_001341206.1:p.Gln1572Arg
NM_001354278.1:c.2627A>G	NP_001341207.1:p.Gln876Arg
NM_001354279.1:c.2663A>G	NP_001341208.1:p.Gln888Arg
NM_001354280.1:c.2648A>G	NP_001341209.1:p.Gln883Arg
NM_001354281.1:c.2627A>G	NP_001341210.1:p.Gln876Arg
NM_001354282.1:c.2663A>G	NP_001341211.1:p.Gln888Arg
NM_020977.4:c.5099A>G	NP_066187.2:p.Gln1700Arg
XM_005262945.3:c.11255A>G	XP_005263002.1:p.Gln3752Arg
XM_017008067.1:c.11495A>G	XP_016863556.1:p.Gln3832Arg
XM_017008069.1:c.11471A>G	XP_016863558.1:p.Gln3824Arg
XM_017008071.2:c.11381A>G	XP_016863560.1:p.Gln3794Arg
XM_017008072.2:c.11357A>G	XP_016863561.1:p.Gln3786Arg
XM_017008073.2:c.11354A>G	XP_016863562.1:p.Gln3785Arg
XM_017008074.2:c.11327A>G	XP_016863563.1:p.Gln3776Arg
XM_017008075.2:c.11291A>G	XP_016863564.1:p.Gln3764Arg
XM_017008076.2:c.11354A>G	XP_016863565.1:p.Gln3785Arg
XM_017008077.2:c.11168A>G	XP_016863566.1:p.Gln3723Arg
XM_017008078.2:c.5099A>G	XP_016863567.1:p.Gln1700Arg
XM_017008080.2:c.4949A>G	XP_016863569.1:p.Gln1650Arg
XM_024454016.1:c.11390A>G	XP_024309784.1:p.Gln3797Arg
XM_024454017.1:c.5135A>G	XP_024309785.1:p.Gln1712Arg
XM_024454018.1:c.5000A>G	XP_024309786.1:p.Gln1667Arg
XM_024454019.1:c.5078A>G	XP_024309787.1:p.Gln1693Arg
XM_024454020.1:c.5000A>G	XP_024309788.1:p.Gln1667Arg
XM_024454021.1:c.4997A>G	XP_024309789.1:p.Gln1666Arg
XM_024454022.1:c.4937A>G	XP_024309790.1:p.Gln1646Arg
XM_024454023.1:c.4799A>G	XP_024309791.1:p.Gln1600Arg
NM_001148.6:c.11354A>G MANE Select	NP_001139.3:p.Gln3785Arg
NM_001127493.3:c.5072A>G	NP_001120965.1:p.Gln1691Arg
NM_001354225.2:c.5111A>G	NP_001341154.1:p.Gln1704Arg
NM_001354228.2:c.5000A>G	NP_001341157.1:p.Gln1667Arg
NM_001354230.2:c.5078A>G	NP_001341159.1:p.Gln1693Arg
NM_001354231.2:c.5141A>G	NP_001341160.1:p.Gln1714Arg
NM_001354232.2:c.5135A>G	NP_001341161.1:p.Gln1712Arg
NM_001354235.2:c.5096A>G	NP_001341164.1:p.Gln1699Arg
NM_001354236.2:c.4997A>G	NP_001341165.1:p.Gln1666Arg
NM_001354237.2:c.5177A>G	NP_001341166.1:p.Gln1726Arg
NM_001354239.2:c.5069A>G	NP_001341168.1:p.Gln1690Arg
NM_001354240.2:c.5144A>G	NP_001341169.1:p.Gln1715Arg
NM_001354241.2:c.5144A>G	NP_001341170.1:p.Gln1715Arg
NM_001354242.2:c.5141A>G	NP_001341171.1:p.Gln1714Arg
NM_001354243.2:c.5036A>G	NP_001341172.1:p.Gln1679Arg
NM_001354244.2:c.5033A>G	NP_001341173.1:p.Gln1678Arg
NM_001354245.2:c.4937A>G	NP_001341174.1:p.Gln1646Arg
NM_001354246.2:c.5096A>G	NP_001341175.1:p.Gln1699Arg
NM_001354249.2:c.4913A>G	NP_001341178.1:p.Gln1638Arg
NM_001354252.2:c.5069A>G	NP_001341181.1:p.Gln1690Arg
NM_001354253.2:c.4874A>G	NP_001341182.1:p.Gln1625Arg
NM_001354254.2:c.5048A>G	NP_001341183.1:p.Gln1683Arg
NM_001354255.2:c.5036A>G	NP_001341184.1:p.Gln1679Arg
NM_001354256.2:c.5033A>G	NP_001341185.1:p.Gln1678Arg
NM_001354257.2:c.4838A>G	NP_001341186.1:p.Gln1613Arg
NM_001354258.2:c.5000A>G	NP_001341187.1:p.Gln1667Arg
NM_001354260.2:c.4814A>G	NP_001341189.1:p.Gln1605Arg
NM_001354261.2:c.4958A>G	NP_001341190.1:p.Gln1653Arg
NM_001354262.2:c.4937A>G	NP_001341191.1:p.Gln1646Arg
NM_001354264.2:c.4934A>G	NP_001341193.1:p.Gln1645Arg
NM_001354265.2:c.5096A>G	NP_001341194.1:p.Gln1699Arg
NM_001354266.2:c.4913A>G	NP_001341195.1:p.Gln1638Arg
NM_001354267.2:c.4913A>G	NP_001341196.1:p.Gln1638Arg
NM_001354268.2:c.4901A>G	NP_001341197.1:p.Gln1634Arg
NM_001354269.3:c.4886A>G	NP_001341198.1:p.Gln1629Arg
NM_001354270.2:c.4874A>G	NP_001341199.1:p.Gln1625Arg
NM_001354271.2:c.4814A>G	NP_001341200.1:p.Gln1605Arg
NM_001354272.2:c.4970A>G	NP_001341201.1:p.Gln1657Arg
NM_001354273.2:c.4799A>G	NP_001341202.1:p.Gln1600Arg
NM_001354274.2:c.4865A>G	NP_001341203.1:p.Gln1622Arg
NM_001354275.2:c.4937A>G	NP_001341204.1:p.Gln1646Arg
NM_001354276.2:c.4913A>G	NP_001341205.1:p.Gln1638Arg
NM_001354277.2:c.4715A>G	NP_001341206.1:p.Gln1572Arg
NM_001354278.2:c.2627A>G	NP_001341207.1:p.Gln876Arg
NM_001354279.2:c.2663A>G	NP_001341208.1:p.Gln888Arg
NM_001354280.2:c.2648A>G	NP_001341209.1:p.Gln883Arg
NM_001354281.2:c.2627A>G	NP_001341210.1:p.Gln876Arg
NM_001354282.2:c.2663A>G	NP_001341211.1:p.Gln888Arg
NM_001386142.1:c.11120A>G	NP_001373071.1:p.Gln3707Arg
NM_001386143.1:c.5036A>G	NP_001373072.1:p.Gln1679Arg
NM_001386144.1:c.5144A>G	NP_001373073.1:p.Gln1715Arg
NM_001386146.1:c.4880A>G	NP_001373075.1:p.Gln1627Arg
NM_001386147.1:c.4925A>G	NP_001373076.1:p.Gln1642Arg
NM_001386148.2:c.5084A>G	NP_001373077.1:p.Gln1695Arg
NM_001386149.1:c.4880A>G	NP_001373078.1:p.Gln1627Arg
NM_001386150.1:c.4880A>G	NP_001373079.1:p.Gln1627Arg
NM_001386151.1:c.4814A>G	NP_001373080.1:p.Gln1605Arg
NM_001386152.1:c.5156A>G	NP_001373081.1:p.Gln1719Arg
NM_001386153.1:c.4880A>G	NP_001373082.1:p.Gln1627Arg
NM_001386154.1:c.4865A>G	NP_001373083.1:p.Gln1622Arg
NM_001386156.1:c.4838A>G	NP_001373085.1:p.Gln1613Arg
NM_001386157.1:c.4715A>G	NP_001373086.1:p.Gln1572Arg
NM_001386158.1:c.4616A>G	NP_001373087.1:p.Gln1539Arg
NM_001386160.1:c.4943A>G	NP_001373089.1:p.Gln1648Arg
NM_001386161.1:c.5033A>G	NP_001373090.1:p.Gln1678Arg
NM_001386162.1:c.4913A>G	NP_001373091.1:p.Gln1638Arg
NM_001386166.1:c.7754A>G	NP_001373095.1:p.Gln2585Arg
NM_001386167.1:c.1499A>G	NP_001373096.1:p.Gln500Arg
NM_001386174.1:c.11495A>G	NP_001373103.1:p.Gln3832Arg
NM_001386175.1:c.11471A>G	NP_001373104.1:p.Gln3824Arg
NM_001386186.2:c.5084A>G	NP_001373115.1:p.Gln1695Arg
NM_001386187.2:c.4964A>G	NP_001373116.1:p.Gln1655Arg
NM_020977.5:c.5099A>G	NP_066187.2:p.Gln1700Arg