Canonical Allele Identifier: CA393893692

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93521485A>C (hg19) ; chr15:g.92978255A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978255A>C , CM000677.2:g.92978255A>C	GRCh38
NC_000015.9:g.93521485A>C , CM000677.1:g.93521485A>C	GRCh37
NC_000015.8:g.91322489A>C	NCBI36
NG_012826.1:g.82935A>C
NG_012826.2:g.82935A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2106A>C
ENST00000628118.2:c.1633A>C
ENST00000700551.1:c.*1430A>C	ENSP00000515057.1:n.*1430A>C
ENST00000394196.9:c.2599A>C MANE Select	ENSP00000377747.4:p.Thr867Pro
ENST00000635856.1:n.3171A>C
ENST00000636306.1:n.159A>C
ENST00000636881.1:c.1970A>C
ENST00000637572.1:n.3343A>C
ENST00000394196.8:c.2599A>C	ENSP00000377747.4:p.Thr867Pro
ENST00000625463.1:c.139A>C	ENSP00000486391.1:p.Thr47Pro
ENST00000626874.2:c.2599A>C	ENSP00000486629.1:p.Thr867Pro
ENST00000628118.1:n.378A>C
NM_001271.3:c.2599A>C	NP_001262.3:p.Thr867Pro
NM_001271.4:c.2599A>C MANE Select	NP_001262.3:p.Thr867Pro