Canonical Allele Identifier: CA038441

Gene: MSH2

Linked Data

• dbSNP Id: rs773798070
• ExAC: 2:47710126 C / T
• gnomAD v2: 2-47710126-C-T
• gnomAD v4: 2-47482987-C-T
• MyVariant Identifiers: chr2:g.47710126C>T (hg19) ; chr2:g.47482987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482987C>T , CM000664.2:g.47482987C>T	GRCh38
NC_000002.11:g.47710126C>T , CM000664.1:g.47710126C>T	GRCh37
NC_000002.10:g.47563630C>T	NCBI36
NG_007110.2:g.84864C>T , LRG_218:g.84864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2116C>T	ENSP00000495641.2:n.2634+2116C>T
ENST00000233146.7:c.*38C>T MANE Select	ENSP00000233146.2:n.*38C>T
ENST00000543555.6:c.*38C>T	ENSP00000442697.1:n.*38C>T
ENST00000644092.1:c.*934+2116C>T	ENSP00000496351.1:n.*934+2116C>T
ENST00000644900.1:c.487+2116C>T
ENST00000645339.1:c.2634+2116C>T	ENSP00000496441.1:n.2634+2116C>T
ENST00000645506.1:c.2634+2116C>T	ENSP00000495455.1:n.2634+2116C>T
ENST00000646415.1:c.2634+2116C>T	ENSP00000495543.1:n.2634+2116C>T
ENST00000233146.6:c.*38C>T	ENSP00000233146.2:n.*38C>T
ENST00000406134.5:c.2634+2116C>T	ENSP00000384199.1:n.2634+2116C>T
ENST00000461394.5:n.75+2116C>T
ENST00000543555.5:c.*38C>T	ENSP00000442697.1:n.*38C>T
ENST00000610696.4:c.*1239C>T	ENSP00000483159.1:n.*1239C>T
ENST00000613514.4:c.*1383C>T	ENSP00000484137.1:n.*1383C>T
ENST00000617333.3:c.*1609C>T	ENSP00000482468.1:n.*1609C>T
ENST00000617938.4:c.*1815C>T	ENSP00000481158.1:n.*1815C>T
ENST00000621359.2:c.*409C>T	ENSP00000481416.1:n.*409C>T
NM_000251.2:c.*38C>T , LRG_218t1:c.*38C>T	NP_000242.1:n.*38C>T
NM_001258281.1:c.*38C>T	NP_001245210.1:n.*38C>T
XM_005264332.2:c.2634+2116C>T	XP_005264389.2:n.2634+2116C>T
XM_011532867.1:c.2634+2116C>T	XP_011531169.1:n.2634+2116C>T
XR_939685.1:n.2706+2116C>T
XM_005264332.4:c.2634+2116C>T	XP_005264389.2:n.2634+2116C>T
XM_011532867.2:c.2634+2116C>T	XP_011531169.1:n.2634+2116C>T
XR_001738747.2:n.2696+2116C>T
XR_939685.2:n.2696+2116C>T
NM_000251.3:c.*38C>T MANE Select	NP_000242.1:n.*38C>T