Canonical Allele Identifier: CA915943830

Gene: MSH2

Linked Data

• ClinVar Variation Id: 820426
• ClinVar RCV Id: RCV001013868
• dbSNP Id: rs1573567451

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475233_47475234delinsAC , CM000664.2:g.47475233_47475234delinsAC	GRCh38
NC_000002.11:g.47702372_47702373delinsAC , CM000664.1:g.47702372_47702373delinsAC	GRCh37
NC_000002.10:g.47555876_47555877delinsAC	NCBI36
NG_007110.2:g.77110_77111delinsAC , LRG_218:g.77110_77111delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1968_1969delinsAC	ENSP00000495641.2:p.Tyr656Ter
ENST00000233146.7:c.1968_1969delinsAC MANE Select	ENSP00000233146.2:p.Tyr656Ter
ENST00000543555.6:c.1770_1771delinsAC	ENSP00000442697.1:p.Tyr590Ter
ENST00000644092.1:c.*268_*269delinsAC	ENSP00000496351.1:n.*268_*269delinsAC
ENST00000645339.1:c.1968_1969delinsAC	ENSP00000496441.1:p.Tyr656Ter
ENST00000645506.1:c.1968_1969delinsAC	ENSP00000495455.1:p.Tyr656Ter
ENST00000646415.1:c.1968_1969delinsAC	ENSP00000495543.1:p.Tyr656Ter
ENST00000233146.6:c.1968_1969delinsAC	ENSP00000233146.2:p.Tyr656Ter
ENST00000406134.5:c.1968_1969delinsAC	ENSP00000384199.1:p.Tyr656Ter
ENST00000543555.5:c.1770_1771delinsAC	ENSP00000442697.1:p.Tyr590Ter
ENST00000610696.4:c.*364_*365delinsAC	ENSP00000483159.1:n.*364_*365delinsAC
ENST00000613514.4:c.*508_*509delinsAC	ENSP00000484137.1:n.*508_*509delinsAC
ENST00000617333.3:c.*734_*735delinsAC	ENSP00000482468.1:n.*734_*735delinsAC
ENST00000617938.4:c.*940_*941delinsAC	ENSP00000481158.1:n.*940_*941delinsAC
ENST00000621359.2:c.1968_1969delinsAC	ENSP00000481416.1:p.Tyr656Ter
NM_000251.2:c.1968_1969delinsAC , LRG_218t1:c.1968_1969delinsAC	NP_000242.1:p.Tyr656Ter
NM_001258281.1:c.1770_1771delinsAC	NP_001245210.1:p.Tyr590Ter
XM_005264332.2:c.1968_1969delinsAC	XP_005264389.2:p.Tyr656Ter
XM_011532867.1:c.1968_1969delinsAC	XP_011531169.1:p.Tyr656Ter
XR_939685.1:n.2040_2041delinsAC
XM_005264332.4:c.1968_1969delinsAC	XP_005264389.2:p.Tyr656Ter
XM_011532867.2:c.1968_1969delinsAC	XP_011531169.1:p.Tyr656Ter
XR_001738747.2:n.2030_2031delinsAC
XR_939685.2:n.2030_2031delinsAC
NM_000251.3:c.1968_1969delinsAC MANE Select	NP_000242.1:p.Tyr656Ter