Canonical Allele Identifier: CA2630474546

Gene: CHD2

Linked Data

• gnomAD v4: 15-92978073-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978073A>C , CM000677.2:g.92978073A>C	GRCh38
NC_000015.9:g.93521303A>C , CM000677.1:g.93521303A>C	GRCh37
NC_000015.8:g.91322307A>C	NCBI36
NG_012826.1:g.82753A>C
NG_012826.2:g.82753A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2085-161A>C
ENST00000628118.2:c.1526-75A>C
ENST00000700551.1:c.*1409-161A>C	ENSP00000515057.1:n.*1409-161A>C
ENST00000394196.9:c.2578-161A>C MANE Select	ENSP00000377747.4:n.2578-161A>C
ENST00000635856.1:n.3150-161A>C
ENST00000636306.1:n.138-161A>C
ENST00000636881.1:c.1949-161A>C
ENST00000637572.1:n.3322-161A>C
ENST00000394196.8:c.2578-161A>C	ENSP00000377747.4:n.2578-161A>C
ENST00000625463.1:c.118-161A>C	ENSP00000486391.1:n.118-161A>C
ENST00000626874.2:c.2578-161A>C	ENSP00000486629.1:n.2578-161A>C
ENST00000628118.1:n.271-75A>C
NM_001271.3:c.2578-161A>C	NP_001262.3:n.2578-161A>C
NM_001271.4:c.2578-161A>C MANE Select	NP_001262.3:n.2578-161A>C