Canonical Allele Identifier: CA440839371

Gene: ANK2

Linked Data

• MyVariant Identifiers: chr4:g.114294443T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.113373287T>C , CM000666.2:g.113373287T>C	GRCh38
NC_000004.11:g.114294443T>C , CM000666.1:g.114294443T>C	GRCh37
NC_000004.10:g.114513892T>C	NCBI36
NG_009006.2:g.560205T>C , LRG_327:g.560205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506344.6:c.11931T>C	ENSP00000422888.2:p.Val3977=
ENST00000705785.1:c.5523T>C	ENSP00000516169.1:p.Val1841=
ENST00000510275.8:c.2037+3482T>C	ENSP00000421023.4:n.2037+3482T>C
ENST00000612754.2:c.2622T>C	ENSP00000482888.2:p.Val874=
ENST00000681990.1:n.3079T>C
ENST00000682049.1:n.2287T>C
ENST00000682959.1:n.6315T>C
ENST00000683389.1:n.1860T>C
ENST00000683777.1:n.2500T>C
ENST00000683826.1:n.3735+3482T>C
ENST00000683893.1:n.1803T>C
ENST00000683908.1:n.2196T>C
ENST00000683972.1:n.8542T>C
ENST00000684225.1:n.3168T>C
ENST00000684230.1:n.3472+114T>C
ENST00000684378.1:n.4436T>C
ENST00000684470.1:n.3679T>C
ENST00000684730.1:n.5085T>C
ENST00000357077.9:c.11697T>C MANE Select	ENSP00000349588.4:p.Val3899=
ENST00000503423.6:c.11535T>C	ENSP00000421011.2:p.Val3845=
ENST00000505342.6:c.2829T>C	ENSP00000422498.2:p.Val943=
ENST00000510275.7:c.1245T>C	ENSP00000421023.3:p.Val415=
ENST00000671704.1:c.5256T>C	ENSP00000500926.1:p.Val1752=
ENST00000671727.1:c.5436T>C	ENSP00000500102.1:p.Val1812=
ENST00000671756.1:c.5277+114T>C	ENSP00000500712.1:n.5277+114T>C
ENST00000671762.1:c.5571T>C	ENSP00000500954.1:p.Val1857=
ENST00000671793.1:c.5472T>C	ENSP00000499928.1:p.Val1824=
ENST00000671809.1:c.11571T>C	ENSP00000500872.1:p.Val3857=
ENST00000671825.1:c.5379T>C	ENSP00000500459.1:p.Val1793=
ENST00000671854.1:c.5181T>C	ENSP00000500833.1:p.Val1727=
ENST00000671863.1:c.*935T>C	ENSP00000500855.1:n.*935T>C
ENST00000671882.1:c.11428-1477T>C	ENSP00000499887.1:n.11428-1477T>C
ENST00000671893.1:c.5055+114T>C	ENSP00000499986.1:n.5055+114T>C
ENST00000671906.1:c.11511T>C	ENSP00000499953.1:p.Val3837=
ENST00000671951.1:c.5157T>C	ENSP00000500528.1:p.Val1719=
ENST00000671971.1:c.11742T>C	ENSP00000499832.1:p.Val3914=
ENST00000672045.1:c.5280T>C	ENSP00000499959.1:p.Val1760=
ENST00000672068.1:c.11628T>C	ENSP00000499902.1:p.Val3876=
ENST00000672088.1:c.5256T>C	ENSP00000499837.1:p.Val1752=
ENST00000672090.1:c.11535T>C	ENSP00000500540.1:p.Val3845=
ENST00000672177.1:c.5292T>C	ENSP00000500918.1:p.Val1764=
ENST00000672209.1:c.11628T>C	ENSP00000499982.1:p.Val3876=
ENST00000672221.1:c.5277T>C	ENSP00000500473.1:p.Val1759=
ENST00000672240.1:c.11778T>C	ENSP00000500548.1:p.Val3926=
ENST00000672246.1:c.5262+114T>C	ENSP00000499990.1:n.5262+114T>C
ENST00000672251.1:c.11499T>C	ENSP00000500580.1:p.Val3833=
ENST00000672312.1:c.5280T>C	ENSP00000500378.1:p.Val1760=
ENST00000672315.1:c.5292+3482T>C	ENSP00000500780.1:n.5292+3482T>C
ENST00000672350.1:c.5217T>C	ENSP00000500420.1:p.Val1739=
ENST00000672356.1:c.5157T>C	ENSP00000500544.1:p.Val1719=
ENST00000672362.1:c.5508T>C	ENSP00000500522.1:p.Val1836=
ENST00000672366.1:c.5343T>C	ENSP00000500937.1:p.Val1781=
ENST00000672402.1:c.5472T>C	ENSP00000500881.1:p.Val1824=
ENST00000672411.1:c.3003+114T>C	ENSP00000499979.1:n.3003+114T>C
ENST00000672502.1:c.11598T>C	ENSP00000499870.1:p.Val3866=
ENST00000672684.1:c.5181T>C	ENSP00000499943.1:p.Val1727=
ENST00000672696.1:c.5469+114T>C	ENSP00000499828.1:n.5469+114T>C
ENST00000672731.1:c.5253+114T>C	ENSP00000500908.1:n.5253+114T>C
ENST00000672759.1:c.5157T>C	ENSP00000499881.1:p.Val1719=
ENST00000672779.1:c.5487T>C	ENSP00000499869.1:p.Val1829=
ENST00000672793.1:c.5373T>C	ENSP00000500150.1:p.Val1791=
ENST00000672830.1:c.11634T>C	ENSP00000500222.1:p.Val3878=
ENST00000672854.1:c.5244T>C	ENSP00000500311.1:p.Val1748=
ENST00000672880.1:c.5280T>C	ENSP00000500866.1:p.Val1760=
ENST00000672915.1:c.2829T>C	ENSP00000500622.1:p.Val943=
ENST00000672930.1:c.11532+114T>C	ENSP00000499913.1:n.11532+114T>C
ENST00000672934.1:c.11436T>C	ENSP00000500645.1:p.Val3812=
ENST00000672955.1:c.5256T>C	ENSP00000500527.1:p.Val1752=
ENST00000672965.1:c.5316T>C	ENSP00000499891.1:p.Val1772=
ENST00000672986.1:c.4860T>C	ENSP00000499967.1:p.Val1620=
ENST00000672990.1:c.5316T>C	ENSP00000500275.1:p.Val1772=
ENST00000673044.1:c.5292+3482T>C	ENSP00000500933.1:n.5292+3482T>C
ENST00000673048.1:c.2991T>C	ENSP00000500832.1:p.Val997=
ENST00000673109.1:c.11412T>C	ENSP00000500265.1:p.Val3804=
ENST00000673231.1:c.3006T>C	ENSP00000500111.1:p.Val1002=
ENST00000673240.1:c.5487T>C	ENSP00000499996.1:p.Val1829=
ENST00000673255.1:c.5280T>C	ENSP00000500423.1:p.Val1760=
ENST00000673298.1:c.11535T>C	ENSP00000500245.1:p.Val3845=
ENST00000673334.1:c.11448+3482T>C	ENSP00000500854.1:n.11448+3482T>C
ENST00000673353.1:c.2970T>C	ENSP00000500007.1:p.Val990=
ENST00000673363.1:c.11643T>C	ENSP00000500539.1:p.Val3881=
ENST00000673430.1:c.5373T>C	ENSP00000500269.1:p.Val1791=
ENST00000673453.1:c.5298+114T>C	ENSP00000500112.1:n.5298+114T>C
ENST00000673536.1:c.4950T>C	ENSP00000500524.1:p.Val1650=
ENST00000673538.1:c.*935T>C	ENSP00000500842.1:n.*935T>C
ENST00000673546.1:c.5217T>C	ENSP00000500843.1:p.Val1739=
ENST00000673555.1:c.11625+114T>C	ENSP00000500947.1:n.11625+114T>C
ENST00000673573.1:c.11472T>C	ENSP00000500883.1:p.Val3824=
ENST00000264366.10:c.11598T>C	ENSP00000264366.6:p.Val3866=
ENST00000357077.8:c.11697T>C	ENSP00000349588.4:p.Val3899=
ENST00000394537.7:c.5442T>C	ENSP00000378044.3:p.Val1814=
ENST00000505342.5:c.2727T>C	ENSP00000422498.1:p.Val909=
ENST00000506722.5:c.5415T>C	ENSP00000421067.1:p.Val1805=
ENST00000509550.5:c.2970T>C	ENSP00000426944.1:p.Val990=
ENST00000510275.6:c.1491T>C	ENSP00000421023.2:p.Val497=
ENST00000514960.5:c.2539T>C
ENST00000612754.1:c.*3058T>C	ENSP00000482888.1:n.*3058T>C
NM_001127493.1:c.5415T>C , LRG_327t2:c.5415T>C	NP_001120965.1:p.Val1805=
NM_001148.4:c.11697T>C , LRG_327t1:c.11697T>C	NP_001139.3:p.Val3899=
NM_020977.3:c.5442T>C	NP_066187.2:p.Val1814=
XM_005262942.3:c.11823T>C	XP_005262999.1:p.Val3941=
XM_005262945.1:c.11598T>C	XP_005263002.1:p.Val3866=
XM_005262948.3:c.5439T>C	XP_005263005.1:p.Val1813=
XM_006714188.2:c.11877T>C	XP_006714251.1:p.Val3959=
XM_006714189.2:c.11841T>C	XP_006714252.1:p.Val3947=
XM_006714190.2:c.5589T>C	XP_006714253.1:p.Val1863=
XM_006714191.2:c.5529T>C	XP_006714254.1:p.Val1843=
XM_006714192.2:c.5553T>C	XP_006714255.1:p.Val1851=
XM_006714193.2:c.5529T>C	XP_006714256.1:p.Val1843=
XM_006714194.2:c.11817T>C	XP_006714257.1:p.Val3939=
XM_011531891.1:c.11862T>C	XP_011530193.1:p.Val3954=
NM_001127493.2:c.5415T>C	NP_001120965.1:p.Val1805=
NM_001148.5:c.11697T>C	NP_001139.3:p.Val3899=
NM_001354225.1:c.5454T>C	NP_001341154.1:p.Val1818=
NM_001354228.1:c.5436T>C	NP_001341157.1:p.Val1812=
NM_001354230.1:c.5421T>C	NP_001341159.1:p.Val1807=
NM_001354231.1:c.5577T>C	NP_001341160.1:p.Val1859=
NM_001354232.1:c.5571T>C	NP_001341161.1:p.Val1857=
NM_001354235.1:c.5532T>C	NP_001341164.1:p.Val1844=
NM_001354236.1:c.5340T>C	NP_001341165.1:p.Val1780=
NM_001354237.1:c.5520T>C	NP_001341166.1:p.Val1840=
NM_001354239.1:c.5505T>C	NP_001341168.1:p.Val1835=
NM_001354240.1:c.5487T>C	NP_001341169.1:p.Val1829=
NM_001354241.1:c.5487T>C	NP_001341170.1:p.Val1829=
NM_001354242.1:c.5484T>C	NP_001341171.1:p.Val1828=
NM_001354243.1:c.5472T>C	NP_001341172.1:p.Val1824=
NM_001354244.1:c.5469T>C	NP_001341173.1:p.Val1823=
NM_001354245.1:c.5280T>C	NP_001341174.1:p.Val1760=
NM_001354246.1:c.5439T>C	NP_001341175.1:p.Val1813=
NM_001354249.1:c.5256T>C	NP_001341178.1:p.Val1752=
NM_001354252.1:c.5412T>C	NP_001341181.1:p.Val1804=
NM_001354253.1:c.5217T>C	NP_001341182.1:p.Val1739=
NM_001354254.1:c.5391T>C	NP_001341183.1:p.Val1797=
NM_001354255.1:c.5379T>C	NP_001341184.1:p.Val1793=
NM_001354256.1:c.5376T>C	NP_001341185.1:p.Val1792=
NM_001354257.1:c.5181T>C	NP_001341186.1:p.Val1727=
NM_001354258.1:c.5343T>C	NP_001341187.1:p.Val1781=
NM_001354260.1:c.5157T>C	NP_001341189.1:p.Val1719=
NM_001354261.1:c.5301T>C	NP_001341190.1:p.Val1767=
NM_001354262.1:c.5280T>C	NP_001341191.1:p.Val1760=
NM_001354264.1:c.5277T>C	NP_001341193.1:p.Val1759=
NM_001354265.1:c.5436+114T>C	NP_001341194.1:n.5436+114T>C
NM_001354266.1:c.5256T>C	NP_001341195.1:p.Val1752=
NM_001354267.1:c.5256T>C	NP_001341196.1:p.Val1752=
NM_001354268.1:c.5244T>C	NP_001341197.1:p.Val1748=
NM_001354269.1:c.5229T>C	NP_001341198.1:p.Val1743=
NM_001354270.1:c.5217T>C	NP_001341199.1:p.Val1739=
NM_001354271.1:c.5157T>C	NP_001341200.1:p.Val1719=
NM_001354272.1:c.5310+114T>C	NP_001341201.1:n.5310+114T>C
NM_001354273.1:c.5142T>C	NP_001341202.1:p.Val1714=
NM_001354274.1:c.5298+114T>C	NP_001341203.1:n.5298+114T>C
NM_001354275.1:c.5277+114T>C	NP_001341204.1:n.5277+114T>C
NM_001354276.1:c.5253+114T>C	NP_001341205.1:n.5253+114T>C
NM_001354277.1:c.5055+114T>C	NP_001341206.1:n.5055+114T>C
NM_001354278.1:c.2970T>C	NP_001341207.1:p.Val990=
NM_001354279.1:c.3006T>C	NP_001341208.1:p.Val1002=
NM_001354280.1:c.2991T>C	NP_001341209.1:p.Val997=
NM_001354281.1:c.2970T>C	NP_001341210.1:p.Val990=
NM_001354282.1:c.3003+114T>C	NP_001341211.1:n.3003+114T>C
NM_020977.4:c.5442T>C	NP_066187.2:p.Val1814=
XM_005262945.3:c.11598T>C	XP_005263002.1:p.Val3866=
XM_017008067.1:c.11931T>C	XP_016863556.1:p.Val3977=
XM_017008069.1:c.11907T>C	XP_016863558.1:p.Val3969=
XM_017008071.2:c.11817T>C	XP_016863560.1:p.Val3939=
XM_017008072.2:c.11793T>C	XP_016863561.1:p.Val3931=
XM_017008073.2:c.11790T>C	XP_016863562.1:p.Val3930=
XM_017008074.2:c.11763T>C	XP_016863563.1:p.Val3921=
XM_017008075.2:c.11727T>C	XP_016863564.1:p.Val3909=
XM_017008076.2:c.11697T>C	XP_016863565.1:p.Val3899=
XM_017008077.2:c.11604T>C	XP_016863566.1:p.Val3868=
XM_017008078.2:c.5442T>C	XP_016863567.1:p.Val1814=
XM_017008080.2:c.5292T>C	XP_016863569.1:p.Val1764=
XM_024454016.1:c.11826T>C	XP_024309784.1:p.Val3942=
XM_024454017.1:c.5571T>C	XP_024309785.1:p.Val1857=
XM_024454018.1:c.5436T>C	XP_024309786.1:p.Val1812=
XM_024454019.1:c.5421T>C	XP_024309787.1:p.Val1807=
XM_024454020.1:c.5343T>C	XP_024309788.1:p.Val1781=
XM_024454021.1:c.5340T>C	XP_024309789.1:p.Val1780=
XM_024454022.1:c.5280T>C	XP_024309790.1:p.Val1760=
XM_024454023.1:c.5142T>C	XP_024309791.1:p.Val1714=
NM_001148.6:c.11697T>C MANE Select	NP_001139.3:p.Val3899=
NM_001127493.3:c.5415T>C	NP_001120965.1:p.Val1805=
NM_001354225.2:c.5454T>C	NP_001341154.1:p.Val1818=
NM_001354228.2:c.5436T>C	NP_001341157.1:p.Val1812=
NM_001354230.2:c.5421T>C	NP_001341159.1:p.Val1807=
NM_001354231.2:c.5577T>C	NP_001341160.1:p.Val1859=
NM_001354232.2:c.5571T>C	NP_001341161.1:p.Val1857=
NM_001354235.2:c.5532T>C	NP_001341164.1:p.Val1844=
NM_001354236.2:c.5340T>C	NP_001341165.1:p.Val1780=
NM_001354237.2:c.5520T>C	NP_001341166.1:p.Val1840=
NM_001354239.2:c.5505T>C	NP_001341168.1:p.Val1835=
NM_001354240.2:c.5487T>C	NP_001341169.1:p.Val1829=
NM_001354241.2:c.5487T>C	NP_001341170.1:p.Val1829=
NM_001354242.2:c.5484T>C	NP_001341171.1:p.Val1828=
NM_001354243.2:c.5472T>C	NP_001341172.1:p.Val1824=
NM_001354244.2:c.5469T>C	NP_001341173.1:p.Val1823=
NM_001354245.2:c.5280T>C	NP_001341174.1:p.Val1760=
NM_001354246.2:c.5439T>C	NP_001341175.1:p.Val1813=
NM_001354249.2:c.5256T>C	NP_001341178.1:p.Val1752=
NM_001354252.2:c.5412T>C	NP_001341181.1:p.Val1804=
NM_001354253.2:c.5217T>C	NP_001341182.1:p.Val1739=
NM_001354254.2:c.5391T>C	NP_001341183.1:p.Val1797=
NM_001354255.2:c.5379T>C	NP_001341184.1:p.Val1793=
NM_001354256.2:c.5376T>C	NP_001341185.1:p.Val1792=
NM_001354257.2:c.5181T>C	NP_001341186.1:p.Val1727=
NM_001354258.2:c.5343T>C	NP_001341187.1:p.Val1781=
NM_001354260.2:c.5157T>C	NP_001341189.1:p.Val1719=
NM_001354261.2:c.5301T>C	NP_001341190.1:p.Val1767=
NM_001354262.2:c.5280T>C	NP_001341191.1:p.Val1760=
NM_001354264.2:c.5277T>C	NP_001341193.1:p.Val1759=
NM_001354265.2:c.5436+114T>C	NP_001341194.1:n.5436+114T>C
NM_001354266.2:c.5256T>C	NP_001341195.1:p.Val1752=
NM_001354267.2:c.5256T>C	NP_001341196.1:p.Val1752=
NM_001354268.2:c.5244T>C	NP_001341197.1:p.Val1748=
NM_001354269.3:c.5229T>C	NP_001341198.1:p.Val1743=
NM_001354270.2:c.5217T>C	NP_001341199.1:p.Val1739=
NM_001354271.2:c.5157T>C	NP_001341200.1:p.Val1719=
NM_001354272.2:c.5310+114T>C	NP_001341201.1:n.5310+114T>C
NM_001354273.2:c.5142T>C	NP_001341202.1:p.Val1714=
NM_001354274.2:c.5298+114T>C	NP_001341203.1:n.5298+114T>C
NM_001354275.2:c.5277+114T>C	NP_001341204.1:n.5277+114T>C
NM_001354276.2:c.5253+114T>C	NP_001341205.1:n.5253+114T>C
NM_001354277.2:c.5055+114T>C	NP_001341206.1:n.5055+114T>C
NM_001354278.2:c.2970T>C	NP_001341207.1:p.Val990=
NM_001354279.2:c.3006T>C	NP_001341208.1:p.Val1002=
NM_001354280.2:c.2991T>C	NP_001341209.1:p.Val997=
NM_001354281.2:c.2970T>C	NP_001341210.1:p.Val990=
NM_001354282.2:c.3003+114T>C	NP_001341211.1:n.3003+114T>C
NM_001386142.1:c.11463T>C	NP_001373071.1:p.Val3821=
NM_001386143.1:c.5472T>C	NP_001373072.1:p.Val1824=
NM_001386144.1:c.5580T>C	NP_001373073.1:p.Val1860=
NM_001386146.1:c.5316T>C	NP_001373075.1:p.Val1772=
NM_001386147.1:c.5268T>C	NP_001373076.1:p.Val1756=
NM_001386148.2:c.5427T>C	NP_001373077.1:p.Val1809=
NM_001386149.1:c.5223T>C	NP_001373078.1:p.Val1741=
NM_001386150.1:c.5316T>C	NP_001373079.1:p.Val1772=
NM_001386151.1:c.5250T>C	NP_001373080.1:p.Val1750=
NM_001386152.1:c.5412+3482T>C	NP_001373081.1:n.5412+3482T>C
NM_001386153.1:c.5223T>C	NP_001373082.1:p.Val1741=
NM_001386154.1:c.5208T>C	NP_001373083.1:p.Val1736=
NM_001386156.1:c.5181T>C	NP_001373085.1:p.Val1727=
NM_001386157.1:c.5058T>C	NP_001373086.1:p.Val1686=
NM_001386158.1:c.4959T>C	NP_001373087.1:p.Val1653=
NM_001386160.1:c.5286T>C	NP_001373089.1:p.Val1762=
NM_001386161.1:c.5376T>C	NP_001373090.1:p.Val1792=
NM_001386162.1:c.5253+114T>C	NP_001373091.1:n.5253+114T>C
NM_001386166.1:c.8097T>C	NP_001373095.1:p.Val2699=
NM_001386167.1:c.1935T>C	NP_001373096.1:p.Val645=
NM_001386174.1:c.11931T>C	NP_001373103.1:p.Val3977=
NM_001386175.1:c.11907T>C	NP_001373104.1:p.Val3969=
NM_001386186.2:c.5427T>C	NP_001373115.1:p.Val1809=
NM_001386187.2:c.5307T>C	NP_001373116.1:p.Val1769=
NM_020977.5:c.5442T>C	NP_066187.2:p.Val1814=