Canonical Allele Identifier: CA532705164

Gene: MSH2

Linked Data

• dbSNP Id: rs1244916714
• gnomAD v2: 2-47639740-A-ACT
• MyVariant Identifiers: chr2:g.47639740_47639741insCT (hg19) ; chr2:g.47412601_47412602insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412601_47412602insCT , CM000664.2:g.47412601_47412602insCT	GRCh38
NC_000002.11:g.47639740_47639741insCT , CM000664.1:g.47639740_47639741insCT	GRCh37
NC_000002.10:g.47493244_47493245insCT	NCBI36
NG_007110.2:g.14478_14479insCT , LRG_218:g.14478_14479insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.792+41_792+42insCT	ENSP00000495641.2:n.792+41_792+42insCT
ENST00000233146.7:c.792+41_792+42insCT MANE Select	ENSP00000233146.2:n.792+41_792+42insCT
ENST00000543555.6:c.594+41_594+42insCT	ENSP00000442697.1:n.594+41_594+42insCT
ENST00000644092.1:c.792+41_792+42insCT	ENSP00000496351.1:n.792+41_792+42insCT
ENST00000645339.1:c.792+41_792+42insCT	ENSP00000496441.1:n.792+41_792+42insCT
ENST00000645506.1:c.792+41_792+42insCT	ENSP00000495455.1:n.792+41_792+42insCT
ENST00000646415.1:c.792+41_792+42insCT	ENSP00000495543.1:n.792+41_792+42insCT
ENST00000233146.6:c.792+41_792+42insCT	ENSP00000233146.2:n.792+41_792+42insCT
ENST00000406134.5:c.792+41_792+42insCT	ENSP00000384199.1:n.792+41_792+42insCT
ENST00000543555.5:c.594+41_594+42insCT	ENSP00000442697.1:n.594+41_594+42insCT
ENST00000610696.4:c.792+41_792+42insCT	ENSP00000483159.1:n.792+41_792+42insCT
ENST00000613514.4:c.792+41_792+42insCT	ENSP00000484137.1:n.792+41_792+42insCT
ENST00000617333.3:c.792+41_792+42insCT	ENSP00000482468.1:n.792+41_792+42insCT
ENST00000617938.4:c.792+41_792+42insCT	ENSP00000481158.1:n.792+41_792+42insCT
ENST00000621359.2:c.792+41_792+42insCT	ENSP00000481416.1:n.792+41_792+42insCT
NM_000251.2:c.792+41_792+42insCT , LRG_218t1:c.792+41_792+42insCT	NP_000242.1:n.792+41_792+42insCT
NM_001258281.1:c.594+41_594+42insCT	NP_001245210.1:n.594+41_594+42insCT
XM_005264332.2:c.792+41_792+42insCT	XP_005264389.2:n.792+41_792+42insCT
XM_011532867.1:c.792+41_792+42insCT	XP_011531169.1:n.792+41_792+42insCT
XR_939685.1:n.864+41_864+42insCT
XM_005264332.4:c.792+41_792+42insCT	XP_005264389.2:n.792+41_792+42insCT
XM_011532867.2:c.792+41_792+42insCT	XP_011531169.1:n.792+41_792+42insCT
XR_001738747.2:n.854+41_854+42insCT
XR_939685.2:n.854+41_854+42insCT
NM_000251.3:c.792+41_792+42insCT MANE Select	NP_000242.1:n.792+41_792+42insCT