Canonical Allele Identifier: CA425971656

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1145576
• ClinVar RCV Id: RCV001484480
• dbSNP Id: rs2104461462
• MyVariant Identifiers: chr2:g.47710010A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482871A>G , CM000664.2:g.47482871A>G	GRCh38
NC_000002.11:g.47710010A>G , CM000664.1:g.47710010A>G	GRCh37
NC_000002.10:g.47563514A>G	NCBI36
NG_007110.2:g.84748A>G , LRG_218:g.84748A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2000A>G	ENSP00000495641.2:n.2634+2000A>G
ENST00000233146.7:c.2727A>G MANE Select	ENSP00000233146.2:p.Lys909=
ENST00000543555.6:c.2529A>G	ENSP00000442697.1:p.Lys843=
ENST00000644092.1:c.*934+2000A>G	ENSP00000496351.1:n.*934+2000A>G
ENST00000644900.1:c.487+2000A>G
ENST00000645339.1:c.2634+2000A>G	ENSP00000496441.1:n.2634+2000A>G
ENST00000645506.1:c.2634+2000A>G	ENSP00000495455.1:n.2634+2000A>G
ENST00000646415.1:c.2634+2000A>G	ENSP00000495543.1:n.2634+2000A>G
ENST00000233146.6:c.2727A>G	ENSP00000233146.2:p.Lys909=
ENST00000406134.5:c.2634+2000A>G	ENSP00000384199.1:n.2634+2000A>G
ENST00000461394.5:n.75+2000A>G
ENST00000543555.5:c.2529A>G	ENSP00000442697.1:p.Lys843=
ENST00000610696.4:c.*1123A>G	ENSP00000483159.1:n.*1123A>G
ENST00000613514.4:c.*1267A>G	ENSP00000484137.1:n.*1267A>G
ENST00000617333.3:c.*1493A>G	ENSP00000482468.1:n.*1493A>G
ENST00000617938.4:c.*1699A>G	ENSP00000481158.1:n.*1699A>G
ENST00000621359.2:c.*293A>G	ENSP00000481416.1:n.*293A>G
NM_000251.2:c.2727A>G , LRG_218t1:c.2727A>G	NP_000242.1:p.Lys909=
NM_001258281.1:c.2529A>G	NP_001245210.1:p.Lys843=
XM_005264332.2:c.2634+2000A>G	XP_005264389.2:n.2634+2000A>G
XM_011532867.1:c.2634+2000A>G	XP_011531169.1:n.2634+2000A>G
XR_939685.1:n.2706+2000A>G
XM_005264332.4:c.2634+2000A>G	XP_005264389.2:n.2634+2000A>G
XM_011532867.2:c.2634+2000A>G	XP_011531169.1:n.2634+2000A>G
XR_001738747.2:n.2696+2000A>G
XR_939685.2:n.2696+2000A>G
NM_000251.3:c.2727A>G MANE Select	NP_000242.1:p.Lys909=