Canonical Allele Identifier: CA018096

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90639
• ClinVar RCV Id: RCV000076135 ; RCV001353626 ; RCV003452826
• dbSNP Id: rs63751482
• MyVariant Identifiers: chr2:g.47630466_47630494del (hg19) ; chr2:g.47630464_47630492del (hg19) ; chr2:g.47403327_47403355del (hg38) ; chr2:g.47403325_47403353del (hg38)
• PubMed: PMID:10196371 ; PMID:10524526 ; PMID:15713769 ; PMID:19698169

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403327_47403355del , CM000664.2:g.47403327_47403355del	GRCh38
NC_000002.11:g.47630466_47630494del , CM000664.1:g.47630466_47630494del	GRCh37
NC_000002.10:g.47483970_47483998del	NCBI36
NG_007110.2:g.5204_5232del , LRG_218:g.5204_5232del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.136_164del	ENSP00000495641.2:p.His46GlyfsTer26
ENST00000233146.7:c.136_164del MANE Select	ENSP00000233146.2:p.His46GlyfsTer26
ENST00000543555.6:c.-30-33_-30-5del	ENSP00000442697.1:n.-30-33_-30-5del
ENST00000644092.1:c.136_164del	ENSP00000496351.1:p.His46GlyfsTer26
ENST00000645339.1:c.136_164del	ENSP00000496441.1:p.His46GlyfsTer26
ENST00000645506.1:c.136_164del	ENSP00000495455.1:p.His46GlyfsTer26
ENST00000646415.1:c.136_164del	ENSP00000495543.1:p.His46GlyfsTer26
ENST00000233146.6:c.136_164del	ENSP00000233146.2:p.His46GlyfsTer26
ENST00000406134.5:c.136_164del	ENSP00000384199.1:p.His46GlyfsTer26
ENST00000454849.5:c.-30-33_-30-5del	ENSP00000411482.1:n.-30-33_-30-5del
ENST00000543555.5:c.-30-33_-30-5del	ENSP00000442697.1:n.-30-33_-30-5del
ENST00000610696.4:c.136_164del	ENSP00000483159.1:p.His46GlyfsTer26
ENST00000613514.4:c.136_164del	ENSP00000484137.1:p.His46GlyfsTer26
ENST00000617333.3:c.136_164del	ENSP00000482468.1:p.His46GlyfsTer26
ENST00000617938.4:c.136_164del	ENSP00000481158.1:p.His46GlyfsTer26
ENST00000621359.2:c.136_164del	ENSP00000481416.1:p.His46GlyfsTer26
NM_000251.2:c.136_164del , LRG_218t1:c.136_164del	NP_000242.1:p.His46GlyfsTer26
NM_001258281.1:c.-30-33_-30-5del	NP_001245210.1:n.-30-33_-30-5del
XM_005264332.2:c.136_164del	XP_005264389.2:p.His46GlyfsTer26
XM_011532867.1:c.136_164del	XP_011531169.1:p.His46GlyfsTer26
XR_939685.1:n.208_236del
XM_005264332.4:c.136_164del	XP_005264389.2:p.His46GlyfsTer26
XM_011532867.2:c.136_164del	XP_011531169.1:p.His46GlyfsTer26
XR_001738747.2:n.198_226del
XR_939685.2:n.198_226del
NM_000251.3:c.136_164del MANE Select	NP_000242.1:p.His46GlyfsTer26