Canonical Allele Identifier: CA3654628

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 1338443
• ClinVar RCV Id: RCV001817814 ; RCV001869787 ; RCV002473303 ; RCV002489885
• dbSNP Id: rs760375899
• ExAC: 6:24278353 GTCT / G
• gnomAD v2: 6-24278353-GTCT-G
• gnomAD v3: 6-24278125-GTCT-G
• gnomAD v4: 6-24278125-GTCT-G
• MyVariant Identifiers: chr6:g.24278354_24278356del (hg19) ; chr6:g.24278127_24278129del (hg38) ; chr6:g.24278126_24278128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24278130_24278132del , CM000668.2:g.24278130_24278132del	GRCh38
NC_000006.11:g.24278358_24278360del , CM000668.1:g.24278358_24278360del	GRCh37
NC_000006.10:g.24386337_24386339del	NCBI36
NG_012829.1:g.84925_84927del
NG_012829.2:g.110165_110167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.843_845del MANE Select	ENSP00000367715.3:p.Glu281del
ENST00000378454.7:c.843_845del	ENSP00000367715.3:p.Glu281del
NM_001195610.1:c.843_845del	NP_001182539.1:p.Glu281del
NM_016356.4:c.843_845del	NP_057440.2:p.Glu281del
NM_016356.5:c.843_845del MANE Select	NP_057440.2:p.Glu281del
NM_001195610.2:c.843_845del	NP_001182539.1:p.Glu281del