Canonical Allele Identifier: CA619617541

Gene: CHD2

Linked Data

• dbSNP Id: rs1309618517
• gnomAD v2: 15-93521384-C-CCAGGTGTAAGGGCTTATTGGA
• gnomAD v4: 15-92978154-C-CCAGGTGTAAGGGCTTATTGGA
• MyVariant Identifiers: chr15:g.93521384_93521385insCAGGTGTAAGGGCTTATTGGA (hg19) ; chr15:g.92978154_92978155insCAGGTGTAAGGGCTTATTGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978156_92978176dup , CM000677.2:g.92978156_92978176dup	GRCh38
NC_000015.9:g.93521386_93521406dup , CM000677.1:g.93521386_93521406dup	GRCh37
NC_000015.8:g.91322390_91322410dup	NCBI36
NG_012826.1:g.82836_82856dup
NG_012826.2:g.82836_82856dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2085-78_2085-58dup
ENST00000628118.2:c.1534_1554dup
ENST00000700551.1:c.*1409-78_*1409-58dup	ENSP00000515057.1:n.*1409-78_*1409-58dup
ENST00000394196.9:c.2578-78_2578-58dup MANE Select	ENSP00000377747.4:n.2578-78_2578-58dup
ENST00000635856.1:n.3150-78_3150-58dup
ENST00000636306.1:n.138-78_138-58dup
ENST00000636881.1:c.1949-78_1949-58dup
ENST00000637572.1:n.3322-78_3322-58dup
ENST00000394196.8:c.2578-78_2578-58dup	ENSP00000377747.4:n.2578-78_2578-58dup
ENST00000625463.1:c.118-78_118-58dup	ENSP00000486391.1:n.118-78_118-58dup
ENST00000626874.2:c.2578-78_2578-58dup	ENSP00000486629.1:n.2578-78_2578-58dup
ENST00000628118.1:n.279_299dup
NM_001271.3:c.2578-78_2578-58dup	NP_001262.3:n.2578-78_2578-58dup
NM_001271.4:c.2578-78_2578-58dup MANE Select	NP_001262.3:n.2578-78_2578-58dup