Canonical Allele Identifier: CA619617542

Gene: CHD2

Linked Data

• dbSNP Id: rs1318293645
• gnomAD v2: 15-93521391-T-TA
• gnomAD v4: 15-92978161-T-TA
• MyVariant Identifiers: chr15:g.93521391_93521392insA (hg19) ; chr15:g.92978161_92978162insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978163dup , CM000677.2:g.92978163dup	GRCh38
NC_000015.9:g.93521393dup , CM000677.1:g.93521393dup	GRCh37
NC_000015.8:g.91322397dup	NCBI36
NG_012826.1:g.82843dup
NG_012826.2:g.82843dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2085-71dup
ENST00000628118.2:c.1541dup
ENST00000700551.1:c.*1409-71dup	ENSP00000515057.1:n.*1409-71dup
ENST00000394196.9:c.2578-71dup MANE Select	ENSP00000377747.4:n.2578-71dup
ENST00000635856.1:n.3150-71dup
ENST00000636306.1:n.138-71dup
ENST00000636881.1:c.1949-71dup
ENST00000637572.1:n.3322-71dup
ENST00000394196.8:c.2578-71dup	ENSP00000377747.4:n.2578-71dup
ENST00000625463.1:c.118-71dup	ENSP00000486391.1:n.118-71dup
ENST00000626874.2:c.2578-71dup	ENSP00000486629.1:n.2578-71dup
ENST00000628118.1:n.286dup
NM_001271.3:c.2578-71dup	NP_001262.3:n.2578-71dup
NM_001271.4:c.2578-71dup MANE Select	NP_001262.3:n.2578-71dup