Canonical Allele Identifier: CA2580067176

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1785553
• ClinVar RCV Id: RCV002422302

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476441_47476442delinsG , CM000664.2:g.47476441_47476442delinsG	GRCh38
NC_000002.11:g.47703580_47703581delinsG , CM000664.1:g.47703580_47703581delinsG	GRCh37
NC_000002.10:g.47557084_47557085delinsG	NCBI36
NG_007110.2:g.78318_78319delinsG , LRG_218:g.78318_78319delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2080_2081delinsG	ENSP00000495641.2:p.Phe694ValfsTer16
ENST00000233146.7:c.2080_2081delinsG MANE Select	ENSP00000233146.2:p.Phe694ValfsTer16
ENST00000543555.6:c.1882_1883delinsG	ENSP00000442697.1:p.Phe628ValfsTer16
ENST00000644092.1:c.*380_*381delinsG	ENSP00000496351.1:n.*380_*381delinsG
ENST00000645339.1:c.2080_2081delinsG	ENSP00000496441.1:p.Phe694ValfsTer16
ENST00000645506.1:c.2080_2081delinsG	ENSP00000495455.1:p.Phe694ValfsTer16
ENST00000646415.1:c.2080_2081delinsG	ENSP00000495543.1:p.Phe694ValfsTer16
ENST00000233146.6:c.2080_2081delinsG	ENSP00000233146.2:p.Phe694ValfsTer16
ENST00000406134.5:c.2080_2081delinsG	ENSP00000384199.1:p.Phe694ValfsTer16
ENST00000543555.5:c.1882_1883delinsG	ENSP00000442697.1:p.Phe628ValfsTer16
ENST00000610696.4:c.*476_*477delinsG	ENSP00000483159.1:n.*476_*477delinsG
ENST00000613514.4:c.*620_*621delinsG	ENSP00000484137.1:n.*620_*621delinsG
ENST00000617333.3:c.*846_*847delinsG	ENSP00000482468.1:n.*846_*847delinsG
ENST00000617938.4:c.*1052_*1053delinsG	ENSP00000481158.1:n.*1052_*1053delinsG
ENST00000621359.2:c.2080_2081delinsG	ENSP00000481416.1:p.Phe694ValfsTer16
NM_000251.2:c.2080_2081delinsG , LRG_218t1:c.2080_2081delinsG	NP_000242.1:p.Phe694ValfsTer16
NM_001258281.1:c.1882_1883delinsG	NP_001245210.1:p.Phe628ValfsTer16
XM_005264332.2:c.2080_2081delinsG	XP_005264389.2:p.Phe694ValfsTer16
XM_011532867.1:c.2080_2081delinsG	XP_011531169.1:p.Phe694ValfsTer16
XR_939685.1:n.2152_2153delinsG
XM_005264332.4:c.2080_2081delinsG	XP_005264389.2:p.Phe694ValfsTer16
XM_011532867.2:c.2080_2081delinsG	XP_011531169.1:p.Phe694ValfsTer16
XR_001738747.2:n.2142_2143delinsG
XR_939685.2:n.2142_2143delinsG
NM_000251.3:c.2080_2081delinsG MANE Select	NP_000242.1:p.Phe694ValfsTer16