Canonical Allele Identifier: CA019310

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90788
• ClinVar RCV Id: RCV000076288
• dbSNP Id: rs63750495
• MyVariant Identifiers: chr2:g.47702192_47702193del (hg19) ; chr2:g.47475053_47475054del (hg38)
• PubMed: PMID:16276679

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475053_47475054del , CM000664.2:g.47475053_47475054del	GRCh38
NC_000002.11:g.47702192_47702193del , CM000664.1:g.47702192_47702193del	GRCh37
NC_000002.10:g.47555696_47555697del	NCBI36
NG_007110.2:g.76930_76931del , LRG_218:g.76930_76931del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1788_1789del	ENSP00000495641.2:p.Asn596LysfsTer?
ENST00000233146.7:c.1788_1789del MANE Select	ENSP00000233146.2:p.Asn596LysfsTer?
ENST00000543555.6:c.1590_1591del	ENSP00000442697.1:p.Asn530LysfsTer?
ENST00000644092.1:c.*88_*89del	ENSP00000496351.1:n.*88_*89del
ENST00000645339.1:c.1788_1789del	ENSP00000496441.1:p.Asn596LysfsTer?
ENST00000645506.1:c.1788_1789del	ENSP00000495455.1:p.Asn596LysfsTer?
ENST00000646415.1:c.1788_1789del	ENSP00000495543.1:p.Asn596LysfsTer?
ENST00000233146.6:c.1788_1789del	ENSP00000233146.2:p.Asn596LysfsTer?
ENST00000406134.5:c.1788_1789del	ENSP00000384199.1:p.Asn596LysfsTer?
ENST00000543555.5:c.1590_1591del	ENSP00000442697.1:p.Asn530LysfsTer?
ENST00000610696.4:c.*184_*185del	ENSP00000483159.1:n.*184_*185del
ENST00000613514.4:c.*328_*329del	ENSP00000484137.1:n.*328_*329del
ENST00000617333.3:c.*554_*555del	ENSP00000482468.1:n.*554_*555del
ENST00000617938.4:c.*760_*761del	ENSP00000481158.1:n.*760_*761del
ENST00000621359.2:c.1788_1789del	ENSP00000481416.1:p.Asn596LysfsTer?
NM_000251.2:c.1788_1789del , LRG_218t1:c.1788_1789del	NP_000242.1:p.Asn596LysfsTer?
NM_001258281.1:c.1590_1591del	NP_001245210.1:p.Asn530LysfsTer?
XM_005264332.2:c.1788_1789del	XP_005264389.2:p.Asn596LysfsTer?
XM_011532867.1:c.1788_1789del	XP_011531169.1:p.Asn596LysfsTer?
XR_939685.1:n.1860_1861del
XM_005264332.4:c.1788_1789del	XP_005264389.2:p.Asn596LysfsTer?
XM_011532867.2:c.1788_1789del	XP_011531169.1:p.Asn596LysfsTer?
XR_001738747.2:n.1850_1851del
XR_939685.2:n.1850_1851del
NM_000251.3:c.1788_1789del MANE Select	NP_000242.1:p.Asn596LysfsTer?