Canonical Allele Identifier: CA022242

Gene: MSH2

Linked Data

• ClinVar Variation Id: 188205
• ClinVar RCV Id: RCV000168130 ; RCV001389139
• dbSNP Id: rs786204144
• MyVariant Identifiers: chr2:g.47639689_47639690insA (hg19) ; chr2:g.47412550_47412551insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412550_47412551insA , CM000664.2:g.47412550_47412551insA	GRCh38
NC_000002.11:g.47639689_47639690insA , CM000664.1:g.47639689_47639690insA	GRCh37
NC_000002.10:g.47493193_47493194insA	NCBI36
NG_007110.2:g.14427_14428insA , LRG_218:g.14427_14428insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.782_783insA	ENSP00000495641.2:p.Met261IlefsTer23
ENST00000233146.7:c.782_783insA MANE Select	ENSP00000233146.2:p.Met261IlefsTer23
ENST00000543555.6:c.584_585insA	ENSP00000442697.1:p.Met195IlefsTer23
ENST00000644092.1:c.782_783insA	ENSP00000496351.1:p.Met261IlefsTer23
ENST00000645339.1:c.782_783insA	ENSP00000496441.1:p.Met261IlefsTer23
ENST00000645506.1:c.782_783insA	ENSP00000495455.1:p.Met261IlefsTer23
ENST00000646415.1:c.782_783insA	ENSP00000495543.1:p.Met261IlefsTer23
ENST00000233146.6:c.782_783insA	ENSP00000233146.2:p.Met261IlefsTer23
ENST00000406134.5:c.782_783insA	ENSP00000384199.1:p.Met261IlefsTer23
ENST00000543555.5:c.584_585insA	ENSP00000442697.1:p.Met195IlefsTer23
ENST00000610696.4:c.782_783insA	ENSP00000483159.1:p.Met261IlefsTer23
ENST00000613514.4:c.782_783insA	ENSP00000484137.1:p.Met261IlefsTer23
ENST00000617333.3:c.782_783insA	ENSP00000482468.1:p.Met261IlefsTer23
ENST00000617938.4:c.782_783insA	ENSP00000481158.1:p.Met261IlefsTer23
ENST00000621359.2:c.782_783insA	ENSP00000481416.1:p.Met261IlefsTer23
NM_000251.2:c.782_783insA , LRG_218t1:c.782_783insA	NP_000242.1:p.Met261IlefsTer23
NM_001258281.1:c.584_585insA	NP_001245210.1:p.Met195IlefsTer23
XM_005264332.2:c.782_783insA	XP_005264389.2:p.Met261IlefsTer23
XM_011532867.1:c.782_783insA	XP_011531169.1:p.Met261IlefsTer23
XR_939685.1:n.854_855insA
XM_005264332.4:c.782_783insA	XP_005264389.2:p.Met261IlefsTer23
XM_011532867.2:c.782_783insA	XP_011531169.1:p.Met261IlefsTer23
XR_001738747.2:n.844_845insA
XR_939685.2:n.844_845insA
NM_000251.3:c.782_783insA MANE Select	NP_000242.1:p.Met261IlefsTer23