Canonical Allele Identifier: CA492499662

Gene: CHD2

Linked Data

• gnomAD v4: 15-92978281-T-C
• MyVariant Identifiers: chr15:g.93521511T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978281T>C , CM000677.2:g.92978281T>C	GRCh38
NC_000015.9:g.93521511T>C , CM000677.1:g.93521511T>C	GRCh37
NC_000015.8:g.91322515T>C	NCBI36
NG_012826.1:g.82961T>C
NG_012826.2:g.82961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2132T>C
ENST00000628118.2:c.1659T>C
ENST00000700551.1:c.*1456T>C	ENSP00000515057.1:n.*1456T>C
ENST00000394196.9:c.2625T>C MANE Select	ENSP00000377747.4:p.Asn875=
ENST00000635856.1:n.3197T>C
ENST00000636306.1:n.185T>C
ENST00000636881.1:c.1996T>C
ENST00000637572.1:n.3369T>C
ENST00000394196.8:c.2625T>C	ENSP00000377747.4:p.Asn875=
ENST00000625463.1:c.165T>C	ENSP00000486391.1:p.Asn55=
ENST00000626874.2:c.2625T>C	ENSP00000486629.1:p.Asn875=
ENST00000628118.1:n.404T>C
NM_001271.3:c.2625T>C	NP_001262.3:p.Asn875=
NM_001271.4:c.2625T>C MANE Select	NP_001262.3:p.Asn875=