Canonical Allele Identifier: CA2658949170

Gene: MSH2

Linked Data

• gnomAD v4: 2-47480672-C-CACGCTTCCCCAAATTTCTTATAGGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480673_47480699dup , CM000664.2:g.47480673_47480699dup	GRCh38
NC_000002.11:g.47707812_47707838dup , CM000664.1:g.47707812_47707838dup	GRCh37
NC_000002.10:g.47561316_47561342dup	NCBI36
NG_007110.2:g.82550_82576dup , LRG_218:g.82550_82576dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2459-23_2462dup
ENST00000233146.7:c.2459-23_2462dup
ENST00000543555.6:c.2261-23_2264dup
ENST00000644092.1:c.*759-23_*762dup
ENST00000644900.1:c.312-23_315dup
ENST00000645339.1:c.2459-23_2462dup
ENST00000645506.1:c.2459-23_2462dup
ENST00000646415.1:c.2459-23_2462dup
ENST00000233146.6:c.2459-23_2462dup
ENST00000406134.5:c.2459-23_2462dup
ENST00000543555.5:c.2261-23_2264dup
ENST00000610696.4:c.*855-23_*858dup
ENST00000613514.4:c.*999-23_*1002dup
ENST00000617333.3:c.*1225-23_*1228dup
ENST00000617938.4:c.*1431-23_*1434dup
ENST00000621359.2:c.*25-23_*28dup
NM_000251.2:c.2459-23_2462dup , LRG_218t1:c.2459-23_2462dup
NM_001258281.1:c.2261-23_2264dup
XM_005264332.2:c.2459-23_2462dup
XM_011532867.1:c.2459-23_2462dup
XR_939685.1:n.2531-23_2534dup
XM_005264332.4:c.2459-23_2462dup
XM_011532867.2:c.2459-23_2462dup
XR_001738747.2:n.2521-23_2524dup
XR_939685.2:n.2521-23_2524dup
NM_000251.3:c.2459-23_2462dup