Canonical Allele Identifier: CA034500

Gene: MSH2

Linked Data

• ClinVar Variation Id: 455547
• ClinVar RCV Id: RCV000542566 ; RCV000565201
• dbSNP Id: rs370636719
• ExAC: 2:47703672 G / T
• gnomAD v2: 2-47703672-G-T
• gnomAD v3: 2-47476533-G-T
• gnomAD v4: 2-47476533-G-T
• MyVariant Identifiers: chr2:g.47703672G>T (hg19) ; chr2:g.47476533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476533G>T , CM000664.2:g.47476533G>T	GRCh38
NC_000002.11:g.47703672G>T , CM000664.1:g.47703672G>T	GRCh37
NC_000002.10:g.47557176G>T	NCBI36
NG_007110.2:g.78410G>T , LRG_218:g.78410G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2172G>T	ENSP00000495641.2:p.Thr724=
ENST00000233146.7:c.2172G>T MANE Select	ENSP00000233146.2:p.Thr724=
ENST00000543555.6:c.1974G>T	ENSP00000442697.1:p.Thr658=
ENST00000644092.1:c.*472G>T	ENSP00000496351.1:n.*472G>T
ENST00000644900.1:c.25G>T
ENST00000645339.1:c.2172G>T	ENSP00000496441.1:p.Thr724=
ENST00000645506.1:c.2172G>T	ENSP00000495455.1:p.Thr724=
ENST00000646415.1:c.2172G>T	ENSP00000495543.1:p.Thr724=
ENST00000233146.6:c.2172G>T	ENSP00000233146.2:p.Thr724=
ENST00000406134.5:c.2172G>T	ENSP00000384199.1:p.Thr724=
ENST00000543555.5:c.1974G>T	ENSP00000442697.1:p.Thr658=
ENST00000610696.4:c.*568G>T	ENSP00000483159.1:n.*568G>T
ENST00000613514.4:c.*712G>T	ENSP00000484137.1:n.*712G>T
ENST00000617333.3:c.*938G>T	ENSP00000482468.1:n.*938G>T
ENST00000617938.4:c.*1144G>T	ENSP00000481158.1:n.*1144G>T
ENST00000621359.2:c.2172G>T	ENSP00000481416.1:p.Thr724=
NM_000251.2:c.2172G>T , LRG_218t1:c.2172G>T	NP_000242.1:p.Thr724=
NM_001258281.1:c.1974G>T	NP_001245210.1:p.Thr658=
XM_005264332.2:c.2172G>T	XP_005264389.2:p.Thr724=
XM_011532867.1:c.2172G>T	XP_011531169.1:p.Thr724=
XR_939685.1:n.2244G>T
XM_005264332.4:c.2172G>T	XP_005264389.2:p.Thr724=
XM_011532867.2:c.2172G>T	XP_011531169.1:p.Thr724=
XR_001738747.2:n.2234G>T
XR_939685.2:n.2234G>T
NM_000251.3:c.2172G>T MANE Select	NP_000242.1:p.Thr724=