Canonical Allele Identifier: CA020647

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90987
• ClinVar RCV Id: RCV000076489 ; RCV000163822 ; RCV000202117 ; RCV001051236 ; RCV001824598 ; RCV003452916
• dbSNP Id: rs63751447
• gnomAD v4: 2-47480737-GCTAATTT-G
• MyVariant Identifiers: chr2:g.47707878_47707884del (hg19) ; chr2:g.47707877_47707883del (hg19) ; chr2:g.47480739_47480745del (hg38) ; chr2:g.47480738_47480744del (hg38)
• PubMed: PMID:11112663 ; PMID:11720433 ; PMID:12200596

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480739_47480745del , CM000664.2:g.47480739_47480745del	GRCh38
NC_000002.11:g.47707878_47707884del , CM000664.1:g.47707878_47707884del	GRCh37
NC_000002.10:g.47561382_47561388del	NCBI36
NG_007110.2:g.82616_82622del , LRG_218:g.82616_82622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2502_2508del	ENSP00000495641.2:p.Asn835LeufsTer4
ENST00000233146.7:c.2502_2508del MANE Select	ENSP00000233146.2:p.Asn835LeufsTer4
ENST00000543555.6:c.2304_2310del	ENSP00000442697.1:p.Asn769LeufsTer4
ENST00000644092.1:c.*802_*808del	ENSP00000496351.1:n.*802_*808del
ENST00000644900.1:c.355_361del
ENST00000645339.1:c.2502_2508del	ENSP00000496441.1:p.Asn835LeufsTer4
ENST00000645506.1:c.2502_2508del	ENSP00000495455.1:p.Asn835LeufsTer4
ENST00000646415.1:c.2502_2508del	ENSP00000495543.1:p.Asn835LeufsTer4
ENST00000233146.6:c.2502_2508del	ENSP00000233146.2:p.Asn835LeufsTer4
ENST00000406134.5:c.2502_2508del	ENSP00000384199.1:p.Asn835LeufsTer4
ENST00000543555.5:c.2304_2310del	ENSP00000442697.1:p.Asn769LeufsTer4
ENST00000610696.4:c.*898_*904del	ENSP00000483159.1:n.*898_*904del
ENST00000613514.4:c.*1042_*1048del	ENSP00000484137.1:n.*1042_*1048del
ENST00000617333.3:c.*1268_*1274del	ENSP00000482468.1:n.*1268_*1274del
ENST00000617938.4:c.*1474_*1480del	ENSP00000481158.1:n.*1474_*1480del
ENST00000621359.2:c.*68_*74del	ENSP00000481416.1:n.*68_*74del
NM_000251.2:c.2502_2508del , LRG_218t1:c.2502_2508del	NP_000242.1:p.Asn835LeufsTer4
NM_001258281.1:c.2304_2310del	NP_001245210.1:p.Asn769LeufsTer4
XM_005264332.2:c.2502_2508del	XP_005264389.2:p.Asn835LeufsTer4
XM_011532867.1:c.2502_2508del	XP_011531169.1:p.Asn835LeufsTer4
XR_939685.1:n.2574_2580del
XM_005264332.4:c.2502_2508del	XP_005264389.2:p.Asn835LeufsTer4
XM_011532867.2:c.2502_2508del	XP_011531169.1:p.Asn835LeufsTer4
XR_001738747.2:n.2564_2570del
XR_939685.2:n.2564_2570del
NM_000251.3:c.2502_2508del MANE Select	NP_000242.1:p.Asn835LeufsTer4