Canonical Allele Identifier: CA019912

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90871
• ClinVar RCV Id: RCV000076373 ; RCV000491774 ; RCV000657242 ; RCV001210613 ; RCV001262885 ; RCV003452884
• dbSNP Id: rs63750199
• gnomAD v4: 2-47403391-TG-T
• MyVariant Identifiers: chr2:g.47630534del (hg19) ; chr2:g.47403395del (hg38)
• PubMed: PMID:9036882 ; PMID:10495924 ; PMID:10564582 ; PMID:12362848 ; PMID:17312306 ; PMID:18227862 ; PMID:25430799

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403395del , CM000664.2:g.47403395del	GRCh38
NC_000002.11:g.47630534del , CM000664.1:g.47630534del	GRCh37
NC_000002.10:g.47484038del	NCBI36
NG_007110.2:g.5272del , LRG_218:g.5272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.204del	ENSP00000495641.2:p.Pro69ArgfsTer15
ENST00000233146.7:c.204del MANE Select	ENSP00000233146.2:p.Pro69ArgfsTer15
ENST00000543555.6:c.6del	ENSP00000442697.1:p.Pro3ArgfsTer15
ENST00000644092.1:c.204del	ENSP00000496351.1:p.Pro69ArgfsTer15
ENST00000645339.1:c.204del	ENSP00000496441.1:p.Pro69ArgfsTer15
ENST00000645506.1:c.204del	ENSP00000495455.1:p.Pro69ArgfsTer15
ENST00000646415.1:c.204del	ENSP00000495543.1:p.Pro69ArgfsTer15
ENST00000233146.6:c.204del	ENSP00000233146.2:p.Pro69ArgfsTer15
ENST00000406134.5:c.204del	ENSP00000384199.1:p.Pro69ArgfsTer15
ENST00000454849.5:c.6del	ENSP00000411482.1:p.Pro3ArgfsTer15
ENST00000543555.5:c.6del	ENSP00000442697.1:p.Pro3ArgfsTer15
ENST00000610696.4:c.204del	ENSP00000483159.1:p.Pro69ArgfsTer15
ENST00000613514.4:c.204del	ENSP00000484137.1:p.Pro69ArgfsTer15
ENST00000617333.3:c.204del	ENSP00000482468.1:p.Pro69ArgfsTer15
ENST00000617938.4:c.204del	ENSP00000481158.1:p.Pro69ArgfsTer15
ENST00000621359.2:c.204del	ENSP00000481416.1:p.Pro69ArgfsTer15
NM_000251.2:c.204del , LRG_218t1:c.204del	NP_000242.1:p.Pro69ArgfsTer15
NM_001258281.1:c.6del	NP_001245210.1:p.Pro3ArgfsTer15
XM_005264332.2:c.204del	XP_005264389.2:p.Pro69ArgfsTer15
XM_011532867.1:c.204del	XP_011531169.1:p.Pro69ArgfsTer15
XR_939685.1:n.276del
XM_005264332.4:c.204del	XP_005264389.2:p.Pro69ArgfsTer15
XM_011532867.2:c.204del	XP_011531169.1:p.Pro69ArgfsTer15
XR_001738747.2:n.266del
XR_939685.2:n.266del
NM_000251.3:c.204del MANE Select	NP_000242.1:p.Pro69ArgfsTer15