Canonical Allele Identifier: CA346729828

Gene: MSH2

Linked Data

• ClinVar Variation Id: 619521
• ClinVar RCV Id: RCV000758590
• dbSNP Id: rs1558521698
• MyVariant Identifiers: chr2:g.47705485T>C (hg19) ; chr2:g.47478346T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478346T>C , CM000664.2:g.47478346T>C	GRCh38
NC_000002.11:g.47705485T>C , CM000664.1:g.47705485T>C	GRCh37
NC_000002.10:g.47558989T>C	NCBI36
NG_007110.2:g.80223T>C , LRG_218:g.80223T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2285T>C	ENSP00000495641.2:p.Leu762Ser
ENST00000233146.7:c.2285T>C MANE Select	ENSP00000233146.2:p.Leu762Ser
ENST00000543555.6:c.2087T>C	ENSP00000442697.1:p.Leu696Ser
ENST00000644092.1:c.*585T>C	ENSP00000496351.1:n.*585T>C
ENST00000644900.1:c.138T>C
ENST00000645339.1:c.2285T>C	ENSP00000496441.1:p.Leu762Ser
ENST00000645506.1:c.2285T>C	ENSP00000495455.1:p.Leu762Ser
ENST00000646415.1:c.2285T>C	ENSP00000495543.1:p.Leu762Ser
ENST00000233146.6:c.2285T>C	ENSP00000233146.2:p.Leu762Ser
ENST00000406134.5:c.2285T>C	ENSP00000384199.1:p.Leu762Ser
ENST00000543555.5:c.2087T>C	ENSP00000442697.1:p.Leu696Ser
ENST00000610696.4:c.*681T>C	ENSP00000483159.1:n.*681T>C
ENST00000613514.4:c.*825T>C	ENSP00000484137.1:n.*825T>C
ENST00000617333.3:c.*1051T>C	ENSP00000482468.1:n.*1051T>C
ENST00000617938.4:c.*1257T>C	ENSP00000481158.1:n.*1257T>C
ENST00000621359.2:c.2285T>C	ENSP00000481416.1:p.Leu762Ser
NM_000251.2:c.2285T>C , LRG_218t1:c.2285T>C	NP_000242.1:p.Leu762Ser
NM_001258281.1:c.2087T>C	NP_001245210.1:p.Leu696Ser
XM_005264332.2:c.2285T>C	XP_005264389.2:p.Leu762Ser
XM_011532867.1:c.2285T>C	XP_011531169.1:p.Leu762Ser
XR_939685.1:n.2357T>C
XM_005264332.4:c.2285T>C	XP_005264389.2:p.Leu762Ser
XM_011532867.2:c.2285T>C	XP_011531169.1:p.Leu762Ser
XR_001738747.2:n.2347T>C
XR_939685.2:n.2347T>C
NM_000251.3:c.2285T>C MANE Select	NP_000242.1:p.Leu762Ser