Canonical Allele Identifier: CA2630473983

Gene: CHD2

Linked Data

• gnomAD v4: 15-92974951-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92974954_92974955dup , CM000677.2:g.92974954_92974955dup	GRCh38
NC_000015.9:g.93518184_93518185dup , CM000677.1:g.93518184_93518185dup	GRCh37
NC_000015.8:g.91319188_91319189dup	NCBI36
NG_012826.1:g.79634_79635dup
NG_012826.2:g.79634_79635dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2084+4_2084+5dup
ENST00000628118.2:c.1525+4_1525+5dup
ENST00000700550.1:c.*575_*576dup	ENSP00000515056.1:n.*575_*576dup
ENST00000700551.1:c.*1408+4_*1408+5dup	ENSP00000515057.1:n.*1408+4_*1408+5dup
ENST00000394196.9:c.2577+4_2577+5dup MANE Select	ENSP00000377747.4:n.2577+4_2577+5dup
ENST00000635856.1:n.3149+4_3149+5dup
ENST00000636306.1:n.137+4_137+5dup
ENST00000636881.1:c.1948+4_1948+5dup
ENST00000637572.1:n.3321+4_3321+5dup
ENST00000394196.8:c.2577+4_2577+5dup	ENSP00000377747.4:n.2577+4_2577+5dup
ENST00000625463.1:c.117+4_117+5dup	ENSP00000486391.1:n.117+4_117+5dup
ENST00000626874.2:c.2577+4_2577+5dup	ENSP00000486629.1:n.2577+4_2577+5dup
ENST00000628118.1:n.270+4_270+5dup
NM_001271.3:c.2577+4_2577+5dup	NP_001262.3:n.2577+4_2577+5dup
NM_001271.4:c.2577+4_2577+5dup MANE Select	NP_001262.3:n.2577+4_2577+5dup