Canonical Allele Identifier: CA1030266361

Gene: MSH2

Linked Data

• dbSNP Id: rs1672219653
• gnomAD v3: 2-47403123-A-G
• gnomAD v4: 2-47403123-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403123A>G , CM000664.2:g.47403123A>G	GRCh38
NC_000002.11:g.47630262A>G , CM000664.1:g.47630262A>G	GRCh37
NC_000002.10:g.47483766A>G	NCBI36
NG_007110.2:g.5000A>G , LRG_218:g.5000A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543555.6:c.-83A>G	ENSP00000442697.1:n.-83A>G
ENST00000644092.1:c.-69A>G	ENSP00000496351.1:n.-69A>G
ENST00000645339.1:c.-69A>G	ENSP00000496441.1:n.-69A>G
ENST00000645506.1:c.-69A>G	ENSP00000495455.1:n.-69A>G
ENST00000646415.1:c.-69A>G	ENSP00000495543.1:n.-69A>G
ENST00000233146.6:c.-69A>G	ENSP00000233146.2:n.-69A>G
ENST00000454849.5:c.-83A>G	ENSP00000411482.1:n.-83A>G
ENST00000543555.5:c.-83A>G	ENSP00000442697.1:n.-83A>G
NM_000251.2:c.-69A>G , LRG_218t1:c.-69A>G	NP_000242.1:n.-69A>G
NM_001258281.1:c.-83A>G	NP_001245210.1:n.-83A>G
XM_005264332.2:c.-69A>G	XP_005264389.2:n.-69A>G
XM_011532867.1:c.-69A>G	XP_011531169.1:n.-69A>G
XR_939685.1:n.4A>G