Canonical Allele Identifier: CA2838862296

Gene: CHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978172T>C , CM000677.2:g.92978172T>C	GRCh38
NC_000015.9:g.93521402T>C , CM000677.1:g.93521402T>C	GRCh37
NC_000015.8:g.91322406T>C	NCBI36
NG_012826.1:g.82852T>C
NG_012826.2:g.82852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2085-62T>C
ENST00000628118.2:c.1550T>C
ENST00000700551.1:c.*1409-62T>C	ENSP00000515057.1:n.*1409-62T>C
ENST00000394196.9:c.2578-62T>C MANE Select	ENSP00000377747.4:n.2578-62T>C
ENST00000635856.1:n.3150-62T>C
ENST00000636306.1:n.138-62T>C
ENST00000636881.1:c.1949-62T>C
ENST00000637572.1:n.3322-62T>C
ENST00000394196.8:c.2578-62T>C	ENSP00000377747.4:n.2578-62T>C
ENST00000625463.1:c.118-62T>C	ENSP00000486391.1:n.118-62T>C
ENST00000626874.2:c.2578-62T>C	ENSP00000486629.1:n.2578-62T>C
ENST00000628118.1:n.295T>C
NM_001271.3:c.2578-62T>C	NP_001262.3:n.2578-62T>C
NM_001271.4:c.2578-62T>C MANE Select	NP_001262.3:n.2578-62T>C