Canonical Allele Identifier: CA036766

Gene: MSH2

Linked Data

• ClinVar Variation Id: 408526
• ClinVar RCV Id: RCV000580161 ; RCV000460192 ; RCV003317217 ; RCV004000789
• dbSNP Id: rs549759248
• ExAC: 2:47707970 T / C
• gnomAD v2: 2-47707970-T-C
• gnomAD v4: 2-47480831-T-C
• MyVariant Identifiers: chr2:g.47707970T>C (hg19) ; chr2:g.47480831T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480831T>C , CM000664.2:g.47480831T>C	GRCh38
NC_000002.11:g.47707970T>C , CM000664.1:g.47707970T>C	GRCh37
NC_000002.10:g.47561474T>C	NCBI36
NG_007110.2:g.82708T>C , LRG_218:g.82708T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2594T>C	ENSP00000495641.2:p.Ile865Thr
ENST00000233146.7:c.2594T>C MANE Select	ENSP00000233146.2:p.Ile865Thr
ENST00000543555.6:c.2396T>C	ENSP00000442697.1:p.Ile799Thr
ENST00000644092.1:c.*894T>C	ENSP00000496351.1:n.*894T>C
ENST00000644900.1:c.447T>C
ENST00000645339.1:c.2594T>C	ENSP00000496441.1:p.Ile865Thr
ENST00000645506.1:c.2594T>C	ENSP00000495455.1:p.Ile865Thr
ENST00000646415.1:c.2594T>C	ENSP00000495543.1:p.Ile865Thr
ENST00000233146.6:c.2594T>C	ENSP00000233146.2:p.Ile865Thr
ENST00000406134.5:c.2594T>C	ENSP00000384199.1:p.Ile865Thr
ENST00000461394.5:n.35T>C
ENST00000543555.5:c.2396T>C	ENSP00000442697.1:p.Ile799Thr
ENST00000610696.4:c.*990T>C	ENSP00000483159.1:n.*990T>C
ENST00000613514.4:c.*1134T>C	ENSP00000484137.1:n.*1134T>C
ENST00000617333.3:c.*1360T>C	ENSP00000482468.1:n.*1360T>C
ENST00000617938.4:c.*1566T>C	ENSP00000481158.1:n.*1566T>C
ENST00000621359.2:c.*160T>C	ENSP00000481416.1:n.*160T>C
NM_000251.2:c.2594T>C , LRG_218t1:c.2594T>C	NP_000242.1:p.Ile865Thr
NM_001258281.1:c.2396T>C	NP_001245210.1:p.Ile799Thr
XM_005264332.2:c.2594T>C	XP_005264389.2:p.Ile865Thr
XM_011532867.1:c.2594T>C	XP_011531169.1:p.Ile865Thr
XR_939685.1:n.2666T>C
XM_005264332.4:c.2594T>C	XP_005264389.2:p.Ile865Thr
XM_011532867.2:c.2594T>C	XP_011531169.1:p.Ile865Thr
XR_001738747.2:n.2656T>C
XR_939685.2:n.2656T>C
NM_000251.3:c.2594T>C MANE Select	NP_000242.1:p.Ile865Thr