Canonical Allele Identifier: CA2776312

Gene: TNK2

Linked Data

• ClinVar Variation Id: 1557237
• ClinVar RCV Id: RCV002188230
• dbSNP Id: rs199636920
• ExAC: 3:195597000 G / C
• gnomAD v2: 3-195597000-G-C
• gnomAD v3: 3-195870129-G-C
• gnomAD v4: 3-195870129-G-C
• MyVariant Identifiers: chr3:g.195597000G>C (hg19) ; chr3:g.195870129G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.195870129G>C , CM000665.2:g.195870129G>C	GRCh38
NC_000003.11:g.195597000G>C , CM000665.1:g.195597000G>C	GRCh37
NC_000003.10:g.197081397G>C	NCBI36
NG_029779.1:g.43881C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000672887.2:c.1528C>G MANE Select	ENSP00000499899.1:p.Leu510Val
ENST00000333602.14:c.1528C>G	ENSP00000329425.6:p.Leu510Val
ENST00000381916.7:c.1717C>G	ENSP00000371341.2:p.Leu573Val
ENST00000428187.7:c.1624C>G	ENSP00000392546.1:p.Leu542Val
ENST00000439230.6:c.*140C>G	ENSP00000395588.1:n.*140C>G
ENST00000671753.1:c.1600C>G	ENSP00000499858.1:p.Leu534Val
ENST00000671767.1:c.322C>G	ENSP00000499862.1:p.Leu108Val
ENST00000672024.1:c.1528C>G	ENSP00000500486.1:p.Leu510Val
ENST00000672098.1:c.58C>G	ENSP00000500684.1:p.Leu20Val
ENST00000672320.1:n.378C>G
ENST00000672548.1:c.58C>G	ENSP00000500238.1:p.Leu20Val
ENST00000672614.1:n.4036C>G
ENST00000672669.1:c.58C>G	ENSP00000500276.1:p.Leu20Val
ENST00000672886.1:c.58C>G	ENSP00000500479.1:p.Leu20Val
ENST00000672887.1:c.1528C>G	ENSP00000499899.1:p.Leu510Val
ENST00000673038.1:c.1624C>G	ENSP00000500452.1:p.Leu542Val
ENST00000673358.1:n.1125C>G
ENST00000673374.1:c.*503C>G	ENSP00000500225.1:n.*503C>G
ENST00000673420.1:c.1528C>G	ENSP00000500887.1:p.Leu510Val
ENST00000673440.1:n.40C>G
ENST00000678220.1:c.1624C>G	ENSP00000503221.1:p.Leu542Val
ENST00000333602.10:c.1528C>G	ENSP00000329425.6:p.Leu510Val
ENST00000381916.6:c.1717C>G	ENSP00000371341.2:p.Leu573Val
ENST00000411741.1:c.463C>G	ENSP00000415126.1:p.Leu155Val
ENST00000416152.5:c.184C>G	ENSP00000398614.1:p.Leu62Val
ENST00000424563.5:c.357C>G
ENST00000428187.5:c.1624C>G	ENSP00000392546.1:p.Leu542Val
ENST00000439230.5:c.*140C>G	ENSP00000395588.1:n.*140C>G
ENST00000464041.5:n.1633C>G
ENST00000478623.5:n.346C>G
ENST00000478715.1:n.378C>G
ENST00000481865.5:n.4036C>G
ENST00000489628.1:n.1125C>G
ENST00000495247.5:n.40C>G
NM_001010938.1:c.1717C>G	NP_001010938.1:p.Leu573Val
NM_001308046.1:c.1624C>G	NP_001294975.1:p.Leu542Val
NM_005781.4:c.1528C>G	NP_005772.3:p.Leu510Val
XM_005269268.3:c.1717C>G	XP_005269325.1:p.Leu573Val
XM_005269270.3:c.1528C>G	XP_005269327.1:p.Leu510Val
XM_005269274.3:c.811C>G	XP_005269331.1:p.Leu271Val
XM_005269275.3:c.586C>G	XP_005269332.1:p.Leu196Val
XM_011512317.1:c.2020C>G	XP_011510619.1:p.Leu674Val
XM_011512318.1:c.1528C>G	XP_011510620.1:p.Leu510Val
XM_011512319.1:c.1528C>G	XP_011510621.1:p.Leu510Val
XM_011512320.1:c.1528C>G	XP_011510622.1:p.Leu510Val
XM_011512321.1:c.1300C>G	XP_011510623.1:p.Leu434Val
XM_011512317.3:c.2020C>G	XP_011510619.1:p.Leu674Val
XM_011512318.2:c.1624C>G	XP_011510620.2:p.Leu542Val
XM_011512321.2:c.1300C>G	XP_011510623.1:p.Leu434Val
XM_017005508.1:c.1624C>G	XP_016860997.1:p.Leu542Val
XM_017005509.1:c.1624C>G	XP_016860998.1:p.Leu542Val
XM_017005510.1:c.1624C>G	XP_016860999.1:p.Leu542Val
XM_024453291.1:c.1720C>G	XP_024309059.1:p.Leu574Val
XM_024453292.1:c.1579C>G	XP_024309060.1:p.Leu527Val
XM_024453293.1:c.1528C>G	XP_024309061.1:p.Leu510Val
XM_024453294.1:c.1528C>G	XP_024309062.1:p.Leu510Val
XM_024453295.1:c.1528C>G	XP_024309063.1:p.Leu510Val
NM_001010938.2:c.1600C>G	NP_001010938.2:p.Leu534Val
NM_001308046.2:c.1624C>G	NP_001294975.1:p.Leu542Val
NM_001382271.1:c.1624C>G	NP_001369200.1:p.Leu542Val
NM_001382272.1:c.1600C>G	NP_001369201.1:p.Leu534Val
NM_001382273.1:c.1528C>G MANE Select	NP_001369202.1:p.Leu510Val
NM_001382274.1:c.1528C>G	NP_001369203.1:p.Leu510Val
NM_001382275.1:c.1624C>G	NP_001369204.1:p.Leu542Val
NM_001386164.1:c.1528C>G	NP_001373093.1:p.Leu510Val
NM_001387707.1:c.1624C>G	NP_001374636.1:p.Leu542Val
NM_001387708.1:c.1600C>G	NP_001374637.1:p.Leu534Val
NM_001387709.1:c.1528C>G	NP_001374638.1:p.Leu510Val
NM_001387710.1:c.1528C>G	NP_001374639.1:p.Leu510Val
NM_001387711.1:c.1528C>G	NP_001374640.1:p.Leu510Val
NM_001387712.1:c.1528C>G	NP_001374641.1:p.Leu510Val
NM_001387713.1:c.1528C>G	NP_001374642.1:p.Leu510Val
NM_001387714.1:c.1528C>G	NP_001374643.1:p.Leu510Val
NM_001387715.1:c.1600C>G	NP_001374644.1:p.Leu534Val
NM_001387716.1:c.1528C>G	NP_001374645.1:p.Leu510Val
NM_001387717.1:c.1528C>G	NP_001374646.1:p.Leu510Val
NM_001387718.1:c.1528C>G	NP_001374647.1:p.Leu510Val
NM_001387719.1:c.1528C>G	NP_001374648.1:p.Leu510Val
NM_001387720.1:c.1528C>G	NP_001374649.1:p.Leu510Val
NM_001387721.1:c.1528C>G	NP_001374650.1:p.Leu510Val
NM_005781.5:c.1528C>G	NP_005772.3:p.Leu510Val
NR_170678.1:n.1775C>G
NR_170679.1:n.2079C>G
NR_170680.1:n.1786C>G
NR_170681.1:n.1786C>G
NR_170682.1:n.2053C>G
NR_170683.1:n.2053C>G
NR_170684.1:n.1466C>G
NR_170685.1:n.1924C>G
NR_170686.1:n.1837C>G
NR_170687.1:n.1767C>G
NR_170688.1:n.2053C>G
NR_170689.1:n.1567C>G
NR_170690.1:n.1378C>G
NR_170691.1:n.1725C>G
NR_170692.1:n.1335C>G