Canonical Allele Identifier: CA2196372187

Gene: CHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92974953_92974954delinsAT , CM000677.2:g.92974953_92974954delinsAT	GRCh38
NC_000015.9:g.93518183_93518184delinsAT , CM000677.1:g.93518183_93518184delinsAT	GRCh37
NC_000015.8:g.91319187_91319188delinsAT	NCBI36
NG_012826.1:g.79633_79634delinsAT
NG_012826.2:g.79633_79634delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2084+3_2084+4delinsAT
ENST00000628118.2:c.1525+3_1525+4delinsAT
ENST00000700550.1:c.*574_*575delinsAT	ENSP00000515056.1:n.*574_*575delinsAT
ENST00000700551.1:c.*1408+3_*1408+4delinsAT	ENSP00000515057.1:n.*1408+3_*1408+4delinsAT
ENST00000394196.9:c.2577+3_2577+4delinsAT MANE Select	ENSP00000377747.4:n.2577+3_2577+4delinsAT
ENST00000635856.1:n.3149+3_3149+4delinsAT
ENST00000636306.1:n.137+3_137+4delinsAT
ENST00000636881.1:c.1948+3_1948+4delinsAT
ENST00000637572.1:n.3321+3_3321+4delinsAT
ENST00000394196.8:c.2577+3_2577+4delinsAT	ENSP00000377747.4:n.2577+3_2577+4delinsAT
ENST00000625463.1:c.117+3_117+4delinsAT	ENSP00000486391.1:n.117+3_117+4delinsAT
ENST00000626874.2:c.2577+3_2577+4delinsAT	ENSP00000486629.1:n.2577+3_2577+4delinsAT
ENST00000628118.1:n.270+3_270+4delinsAT
NM_001271.3:c.2577+3_2577+4delinsAT	NP_001262.3:n.2577+3_2577+4delinsAT
NM_001271.4:c.2577+3_2577+4delinsAT MANE Select	NP_001262.3:n.2577+3_2577+4delinsAT