Canonical Allele Identifier: CA14174339

Gene: CHD2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.93021742T>C , CM000677.2:g.93021742T>C	GRCh38
NC_000015.9:g.93564972T>C , CM000677.1:g.93564972T>C	GRCh37
NC_000015.8:g.91365976T>C	NCBI36
NG_012826.1:g.126422T>C
NG_012826.2:g.126422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.4773+1484T>C
ENST00000394196.9:c.5153+1484T>C MANE Select	ENSP00000377747.4:n.5153+1484T>C
ENST00000394196.8:c.5153+1484T>C	ENSP00000377747.4:n.5153+1484T>C
ENST00000625662.2:c.1556+1484T>C
ENST00000626874.2:c.*1417T>C	ENSP00000486629.1:n.*1417T>C
ENST00000627460.1:c.389+1484T>C
NM_001271.3:c.5153+1484T>C	NP_001262.3:n.5153+1484T>C
NM_001271.4:c.5153+1484T>C MANE Select	NP_001262.3:n.5153+1484T>C