Canonical Allele Identifier: CA017489

Gene: MSH2

Linked Data

• ClinVar Variation Id: 127628
• ClinVar RCV Id: RCV000115497 ; RCV000206195 ; RCV000574856 ; RCV000663163 ; RCV001193851 ; RCV003997268
• dbSNP Id: rs63751412
• ExAC: 2:47657008 C / A
• gnomAD v2: 2-47657008-C-A
• gnomAD v3: 2-47429869-C-A
• gnomAD v4: 2-47429869-C-A
• MyVariant Identifiers: chr2:g.47657008C>A (hg19) ; chr2:g.47429869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429869C>A , CM000664.2:g.47429869C>A	GRCh38
NC_000002.11:g.47657008C>A , CM000664.1:g.47657008C>A	GRCh37
NC_000002.10:g.47510512C>A	NCBI36
NG_007110.2:g.31746C>A , LRG_218:g.31746C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1204C>A	ENSP00000495641.2:p.Gln402Lys
ENST00000233146.7:c.1204C>A MANE Select	ENSP00000233146.2:p.Gln402Lys
ENST00000543555.6:c.1006C>A	ENSP00000442697.1:p.Gln336Lys
ENST00000644092.1:c.1204C>A	ENSP00000496351.1:p.Gln402Lys
ENST00000645339.1:c.1204C>A	ENSP00000496441.1:p.Gln402Lys
ENST00000645506.1:c.1204C>A	ENSP00000495455.1:p.Gln402Lys
ENST00000646415.1:c.1204C>A	ENSP00000495543.1:p.Gln402Lys
ENST00000233146.6:c.1204C>A	ENSP00000233146.2:p.Gln402Lys
ENST00000406134.5:c.1204C>A	ENSP00000384199.1:p.Gln402Lys
ENST00000543555.5:c.1006C>A	ENSP00000442697.1:p.Gln336Lys
ENST00000610696.4:c.1204C>A	ENSP00000483159.1:p.Gln402Lys
ENST00000613514.4:c.1204C>A	ENSP00000484137.1:p.Gln402Lys
ENST00000617333.3:c.1203C>A	ENSP00000482468.1:p.Tyr401Ter
ENST00000617938.4:c.*176C>A	ENSP00000481158.1:n.*176C>A
ENST00000621359.2:c.1204C>A	ENSP00000481416.1:p.Gln402Lys
NM_000251.2:c.1204C>A , LRG_218t1:c.1204C>A	NP_000242.1:p.Gln402Lys
NM_001258281.1:c.1006C>A	NP_001245210.1:p.Gln336Lys
XM_005264332.2:c.1204C>A	XP_005264389.2:p.Gln402Lys
XM_011532867.1:c.1204C>A	XP_011531169.1:p.Gln402Lys
XR_939685.1:n.1276C>A
XM_005264332.4:c.1204C>A	XP_005264389.2:p.Gln402Lys
XM_011532867.2:c.1204C>A	XP_011531169.1:p.Gln402Lys
XR_001738747.2:n.1266C>A
XR_939685.2:n.1266C>A
NM_000251.3:c.1204C>A MANE Select	NP_000242.1:p.Gln402Lys