Canonical Allele Identifier: CA3654644

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 595556
• ClinVar RCV Id: RCV000731135 ; RCV002485893 ; RCV002535192 ; RCV002535191
• dbSNP Id: rs200233521
• ExAC: 6:24278429 C / T
• gnomAD v2: 6-24278429-C-T
• gnomAD v3: 6-24278201-C-T
• gnomAD v4: 6-24278201-C-T
• COSMIC: COSM243968
• MyVariant Identifiers: chr6:g.24278429C>T (hg19) ; chr6:g.24278201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24278201C>T , CM000668.2:g.24278201C>T	GRCh38
NC_000006.11:g.24278429C>T , CM000668.1:g.24278429C>T	GRCh37
NC_000006.10:g.24386408C>T	NCBI36
NG_012829.1:g.84852G>A
NG_012829.2:g.110092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.770G>A MANE Select	ENSP00000367715.3:p.Arg257His
ENST00000378454.7:c.770G>A	ENSP00000367715.3:p.Arg257His
NM_001195610.1:c.770G>A	NP_001182539.1:p.Arg257His
NM_016356.4:c.770G>A	NP_057440.2:p.Arg257His
NM_016356.5:c.770G>A MANE Select	NP_057440.2:p.Arg257His
NM_001195610.2:c.770G>A	NP_001182539.1:p.Arg257His