Canonical Allele Identifier: CA2196373734

Gene: CHD2

Linked Data

• dbSNP Id: rs1596427799
• gnomAD v4: 15-92978190-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978190C>T , CM000677.2:g.92978190C>T	GRCh38
NC_000015.9:g.93521420C>T , CM000677.1:g.93521420C>T	GRCh37
NC_000015.8:g.91322424C>T	NCBI36
NG_012826.1:g.82870C>T
NG_012826.2:g.82870C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2085-44C>T
ENST00000628118.2:c.1568C>T
ENST00000700551.1:c.*1409-44C>T	ENSP00000515057.1:n.*1409-44C>T
ENST00000394196.9:c.2578-44C>T MANE Select	ENSP00000377747.4:n.2578-44C>T
ENST00000635856.1:n.3150-44C>T
ENST00000636306.1:n.138-44C>T
ENST00000636881.1:c.1949-44C>T
ENST00000637572.1:n.3322-44C>T
ENST00000394196.8:c.2578-44C>T	ENSP00000377747.4:n.2578-44C>T
ENST00000625463.1:c.118-44C>T	ENSP00000486391.1:n.118-44C>T
ENST00000626874.2:c.2578-44C>T	ENSP00000486629.1:n.2578-44C>T
ENST00000628118.1:n.313C>T
NM_001271.3:c.2578-44C>T	NP_001262.3:n.2578-44C>T
NM_001271.4:c.2578-44C>T MANE Select	NP_001262.3:n.2578-44C>T