Canonical Allele Identifier: CA019297

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1757
• ClinVar RCV Id: RCV000001827 ; RCV000076285 ; RCV000128908 ; RCV000202293 ; RCV000524362 ; RCV001353543
• dbSNP Id: rs63749831
• ExAC: 2:47702189 CAAT / C
• gnomAD v2: 2-47702189-CAAT-C
• gnomAD v4: 2-47475050-CAAT-C
• MyVariant Identifiers: chr2:g.47702190_47702192del (hg19) ; chr2:g.47475051_47475053del (hg38)
• PubMed: PMID:7874129 ; PMID:8574961 ; PMID:8589682 ; PMID:8592341 ; PMID:8872463 ; PMID:9002677 ; PMID:9125109 ; PMID:9311737 ; PMID:9774676 ; PMID:12067992 ; PMID:12112654 ; PMID:12124176 ; PMID:14574162 ; PMID:15680406 ; PMID:16181381 ; PMID:16395668 ; PMID:16807412 ; PMID:17348456 ; PMID:17473388 ; PMID:18561205 ; PMID:18841495 ; PMID:20587412 ; PMID:21056691 ; PMID:22102614 ; PMID:24362816

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475051_47475053del , CM000664.2:g.47475051_47475053del	GRCh38
NC_000002.11:g.47702190_47702192del , CM000664.1:g.47702190_47702192del	GRCh37
NC_000002.10:g.47555694_47555696del	NCBI36
NG_007110.2:g.76928_76930del , LRG_218:g.76928_76930del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1786_1788del	ENSP00000495641.2:p.Asn596del
ENST00000233146.7:c.1786_1788del MANE Select	ENSP00000233146.2:p.Asn596del
ENST00000543555.6:c.1588_1590del	ENSP00000442697.1:p.Asn530del
ENST00000644092.1:c.*86_*88del	ENSP00000496351.1:n.*86_*88del
ENST00000645339.1:c.1786_1788del	ENSP00000496441.1:p.Asn596del
ENST00000645506.1:c.1786_1788del	ENSP00000495455.1:p.Asn596del
ENST00000646415.1:c.1786_1788del	ENSP00000495543.1:p.Asn596del
ENST00000233146.6:c.1786_1788del	ENSP00000233146.2:p.Asn596del
ENST00000406134.5:c.1786_1788del	ENSP00000384199.1:p.Asn596del
ENST00000543555.5:c.1588_1590del	ENSP00000442697.1:p.Asn530del
ENST00000610696.4:c.*182_*184del	ENSP00000483159.1:n.*182_*184del
ENST00000613514.4:c.*326_*328del	ENSP00000484137.1:n.*326_*328del
ENST00000617333.3:c.*552_*554del	ENSP00000482468.1:n.*552_*554del
ENST00000617938.4:c.*758_*760del	ENSP00000481158.1:n.*758_*760del
ENST00000621359.2:c.1786_1788del	ENSP00000481416.1:p.Asn596del
NM_000251.2:c.1786_1788del , LRG_218t1:c.1786_1788del	NP_000242.1:p.Asn596del
NM_001258281.1:c.1588_1590del	NP_001245210.1:p.Asn530del
XM_005264332.2:c.1786_1788del	XP_005264389.2:p.Asn596del
XM_011532867.1:c.1786_1788del	XP_011531169.1:p.Asn596del
XR_939685.1:n.1858_1860del
XM_005264332.4:c.1786_1788del	XP_005264389.2:p.Asn596del
XM_011532867.2:c.1786_1788del	XP_011531169.1:p.Asn596del
XR_001738747.2:n.1848_1850del
XR_939685.2:n.1848_1850del
NM_000251.3:c.1786_1788del MANE Select	NP_000242.1:p.Asn596del