Canonical Allele Identifier: CA035315

Gene: MSH2

Linked Data

• ClinVar Variation Id: 220156
• ClinVar RCV Id: RCV000206397 ; RCV000219799 ; RCV000759827
• dbSNP Id: rs371718349
• ExAC: 2:47705509 T / C
• gnomAD v2: 2-47705509-T-C
• gnomAD v3: 2-47478370-T-C
• gnomAD v4: 2-47478370-T-C
• MyVariant Identifiers: chr2:g.47705509T>C (hg19) ; chr2:g.47478370T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478370T>C , CM000664.2:g.47478370T>C	GRCh38
NC_000002.11:g.47705509T>C , CM000664.1:g.47705509T>C	GRCh37
NC_000002.10:g.47559013T>C	NCBI36
NG_007110.2:g.80247T>C , LRG_218:g.80247T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2309T>C	ENSP00000495641.2:p.Ile770Thr
ENST00000233146.7:c.2309T>C MANE Select	ENSP00000233146.2:p.Ile770Thr
ENST00000543555.6:c.2111T>C	ENSP00000442697.1:p.Ile704Thr
ENST00000644092.1:c.*609T>C	ENSP00000496351.1:n.*609T>C
ENST00000644900.1:c.162T>C
ENST00000645339.1:c.2309T>C	ENSP00000496441.1:p.Ile770Thr
ENST00000645506.1:c.2309T>C	ENSP00000495455.1:p.Ile770Thr
ENST00000646415.1:c.2309T>C	ENSP00000495543.1:p.Ile770Thr
ENST00000233146.6:c.2309T>C	ENSP00000233146.2:p.Ile770Thr
ENST00000406134.5:c.2309T>C	ENSP00000384199.1:p.Ile770Thr
ENST00000543555.5:c.2111T>C	ENSP00000442697.1:p.Ile704Thr
ENST00000610696.4:c.*705T>C	ENSP00000483159.1:n.*705T>C
ENST00000613514.4:c.*849T>C	ENSP00000484137.1:n.*849T>C
ENST00000617333.3:c.*1075T>C	ENSP00000482468.1:n.*1075T>C
ENST00000617938.4:c.*1281T>C	ENSP00000481158.1:n.*1281T>C
ENST00000621359.2:c.2309T>C	ENSP00000481416.1:p.Ile770Thr
NM_000251.2:c.2309T>C , LRG_218t1:c.2309T>C	NP_000242.1:p.Ile770Thr
NM_001258281.1:c.2111T>C	NP_001245210.1:p.Ile704Thr
XM_005264332.2:c.2309T>C	XP_005264389.2:p.Ile770Thr
XM_011532867.1:c.2309T>C	XP_011531169.1:p.Ile770Thr
XR_939685.1:n.2381T>C
XM_005264332.4:c.2309T>C	XP_005264389.2:p.Ile770Thr
XM_011532867.2:c.2309T>C	XP_011531169.1:p.Ile770Thr
XR_001738747.2:n.2371T>C
XR_939685.2:n.2371T>C
NM_000251.3:c.2309T>C MANE Select	NP_000242.1:p.Ile770Thr