Canonical Allele Identifier: CA034415

Gene: MSH2

Linked Data

• ClinVar Variation Id: 232677
• ClinVar RCV Id: RCV000214268 ; RCV000524727 ; RCV004532799
• dbSNP Id: rs747265823
• ExAC: 2:47703658 A / G
• gnomAD v2: 2-47703658-A-G
• gnomAD v3: 2-47476519-A-G
• gnomAD v4: 2-47476519-A-G
• MyVariant Identifiers: chr2:g.47703658A>G (hg19) ; chr2:g.47476519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476519A>G , CM000664.2:g.47476519A>G	GRCh38
NC_000002.11:g.47703658A>G , CM000664.1:g.47703658A>G	GRCh37
NC_000002.10:g.47557162A>G	NCBI36
NG_007110.2:g.78396A>G , LRG_218:g.78396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2158A>G	ENSP00000495641.2:p.Lys720Glu
ENST00000233146.7:c.2158A>G MANE Select	ENSP00000233146.2:p.Lys720Glu
ENST00000543555.6:c.1960A>G	ENSP00000442697.1:p.Lys654Glu
ENST00000644092.1:c.*458A>G	ENSP00000496351.1:n.*458A>G
ENST00000644900.1:c.11A>G
ENST00000645339.1:c.2158A>G	ENSP00000496441.1:p.Lys720Glu
ENST00000645506.1:c.2158A>G	ENSP00000495455.1:p.Lys720Glu
ENST00000646415.1:c.2158A>G	ENSP00000495543.1:p.Lys720Glu
ENST00000233146.6:c.2158A>G	ENSP00000233146.2:p.Lys720Glu
ENST00000406134.5:c.2158A>G	ENSP00000384199.1:p.Lys720Glu
ENST00000543555.5:c.1960A>G	ENSP00000442697.1:p.Lys654Glu
ENST00000610696.4:c.*554A>G	ENSP00000483159.1:n.*554A>G
ENST00000613514.4:c.*698A>G	ENSP00000484137.1:n.*698A>G
ENST00000617333.3:c.*924A>G	ENSP00000482468.1:n.*924A>G
ENST00000617938.4:c.*1130A>G	ENSP00000481158.1:n.*1130A>G
ENST00000621359.2:c.2158A>G	ENSP00000481416.1:p.Lys720Glu
NM_000251.2:c.2158A>G , LRG_218t1:c.2158A>G	NP_000242.1:p.Lys720Glu
NM_001258281.1:c.1960A>G	NP_001245210.1:p.Lys654Glu
XM_005264332.2:c.2158A>G	XP_005264389.2:p.Lys720Glu
XM_011532867.1:c.2158A>G	XP_011531169.1:p.Lys720Glu
XR_939685.1:n.2230A>G
XM_005264332.4:c.2158A>G	XP_005264389.2:p.Lys720Glu
XM_011532867.2:c.2158A>G	XP_011531169.1:p.Lys720Glu
XR_001738747.2:n.2220A>G
XR_939685.2:n.2220A>G
NM_000251.3:c.2158A>G MANE Select	NP_000242.1:p.Lys720Glu