Canonical Allele Identifier: CA019847

Gene: MSH2

Linked Data

• dbSNP Id: rs587779128
• MyVariant Identifiers: chr2:g.47703523_47703525delinsGCC (hg19) ; chr2:g.47476384_47476386delinsGCC (hg38)
• PubMed: PMID:10077621

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476384_47476386delinsGCC , CM000664.2:g.47476384_47476386delinsGCC	GRCh38
NC_000002.11:g.47703523_47703525delinsGCC , CM000664.1:g.47703523_47703525delinsGCC	GRCh37
NC_000002.10:g.47557027_47557029delinsGCC	NCBI36
NG_007110.2:g.78261_78263delinsGCC , LRG_218:g.78261_78263delinsGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2023_2025delinsGCC	ENSP00000495641.2:p.Lys675Ala
ENST00000233146.7:c.2023_2025delinsGCC MANE Select	ENSP00000233146.2:p.Lys675Ala
ENST00000543555.6:c.1825_1827delinsGCC	ENSP00000442697.1:p.Lys609Ala
ENST00000644092.1:c.*323_*325delinsGCC	ENSP00000496351.1:n.*323_*325delinsGCC
ENST00000645339.1:c.2023_2025delinsGCC	ENSP00000496441.1:p.Lys675Ala
ENST00000645506.1:c.2023_2025delinsGCC	ENSP00000495455.1:p.Lys675Ala
ENST00000646415.1:c.2023_2025delinsGCC	ENSP00000495543.1:p.Lys675Ala
ENST00000233146.6:c.2023_2025delinsGCC	ENSP00000233146.2:p.Lys675Ala
ENST00000406134.5:c.2023_2025delinsGCC	ENSP00000384199.1:p.Lys675Ala
ENST00000543555.5:c.1825_1827delinsGCC	ENSP00000442697.1:p.Lys609Ala
ENST00000610696.4:c.*419_*421delinsGCC	ENSP00000483159.1:n.*419_*421delinsGCC
ENST00000613514.4:c.*563_*565delinsGCC	ENSP00000484137.1:n.*563_*565delinsGCC
ENST00000617333.3:c.*789_*791delinsGCC	ENSP00000482468.1:n.*789_*791delinsGCC
ENST00000617938.4:c.*995_*997delinsGCC	ENSP00000481158.1:n.*995_*997delinsGCC
ENST00000621359.2:c.2023_2025delinsGCC	ENSP00000481416.1:p.Lys675Ala
NM_000251.2:c.2023_2025delinsGCC , LRG_218t1:c.2023_2025delinsGCC	NP_000242.1:p.Lys675Ala
NM_001258281.1:c.1825_1827delinsGCC	NP_001245210.1:p.Lys609Ala
XM_005264332.2:c.2023_2025delinsGCC	XP_005264389.2:p.Lys675Ala
XM_011532867.1:c.2023_2025delinsGCC	XP_011531169.1:p.Lys675Ala
XR_939685.1:n.2095_2097delinsGCC
XM_005264332.4:c.2023_2025delinsGCC	XP_005264389.2:p.Lys675Ala
XM_011532867.2:c.2023_2025delinsGCC	XP_011531169.1:p.Lys675Ala
XR_001738747.2:n.2085_2087delinsGCC
XR_939685.2:n.2085_2087delinsGCC
NM_000251.3:c.2023_2025delinsGCC MANE Select	NP_000242.1:p.Lys675Ala