Canonical Allele Identifier: CA279700

Gene: MSH2

Linked Data

• ClinVar Variation Id: 218043
• ClinVar RCV Id: RCV000202054 ; RCV000490838 ; RCV003454520
• dbSNP Id: rs863225393
• MyVariant Identifiers: chr2:g.47705495_47705496insTA (hg19) ; chr2:g.47478356_47478357insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478356_47478357insTA , CM000664.2:g.47478356_47478357insTA	GRCh38
NC_000002.11:g.47705495_47705496insTA , CM000664.1:g.47705495_47705496insTA	GRCh37
NC_000002.10:g.47558999_47559000insTA	NCBI36
NG_007110.2:g.80233_80234insTA , LRG_218:g.80233_80234insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2295_2296insTA	ENSP00000495641.2:p.Ile766Ter
ENST00000233146.7:c.2295_2296insTA MANE Select	ENSP00000233146.2:p.Ile766Ter
ENST00000543555.6:c.2097_2098insTA	ENSP00000442697.1:p.Ile700Ter
ENST00000644092.1:c.*595_*596insTA	ENSP00000496351.1:n.*595_*596insTA
ENST00000644900.1:c.148_149insTA
ENST00000645339.1:c.2295_2296insTA	ENSP00000496441.1:p.Ile766Ter
ENST00000645506.1:c.2295_2296insTA	ENSP00000495455.1:p.Ile766Ter
ENST00000646415.1:c.2295_2296insTA	ENSP00000495543.1:p.Ile766Ter
ENST00000233146.6:c.2295_2296insTA	ENSP00000233146.2:p.Ile766Ter
ENST00000406134.5:c.2295_2296insTA	ENSP00000384199.1:p.Ile766Ter
ENST00000543555.5:c.2097_2098insTA	ENSP00000442697.1:p.Ile700Ter
ENST00000610696.4:c.*691_*692insTA	ENSP00000483159.1:n.*691_*692insTA
ENST00000613514.4:c.*835_*836insTA	ENSP00000484137.1:n.*835_*836insTA
ENST00000617333.3:c.*1061_*1062insTA	ENSP00000482468.1:n.*1061_*1062insTA
ENST00000617938.4:c.*1267_*1268insTA	ENSP00000481158.1:n.*1267_*1268insTA
ENST00000621359.2:c.2295_2296insTA	ENSP00000481416.1:p.Ile766Ter
NM_000251.2:c.2295_2296insTA , LRG_218t1:c.2295_2296insTA	NP_000242.1:p.Ile766Ter
NM_001258281.1:c.2097_2098insTA	NP_001245210.1:p.Ile700Ter
XM_005264332.2:c.2295_2296insTA	XP_005264389.2:p.Ile766Ter
XM_011532867.1:c.2295_2296insTA	XP_011531169.1:p.Ile766Ter
XR_939685.1:n.2367_2368insTA
XM_005264332.4:c.2295_2296insTA	XP_005264389.2:p.Ile766Ter
XM_011532867.2:c.2295_2296insTA	XP_011531169.1:p.Ile766Ter
XR_001738747.2:n.2357_2358insTA
XR_939685.2:n.2357_2358insTA
NM_000251.3:c.2295_2296insTA MANE Select	NP_000242.1:p.Ile766Ter