Canonical Allele Identifier: CA363280098
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3064383
ClinVar RCV Id: RCV003988923
dbSNP Id: rs1203518827
gnomAD v2: 6-24291166-G-A
gnomAD v4: 6-24290938-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290938G>A , CM000668.2:g.24290938G>A GRCh38
NC_000006.11:g.24291166G>A , CM000668.1:g.24291166G>A GRCh37
NC_000006.10:g.24399145G>A NCBI36
NG_012829.1:g.72115C>T
NG_012829.2:g.97355C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.698C>T MANE Select ENSP00000367715.3:p.Pro233Leu
ENST00000378454.7:c.698C>T ENSP00000367715.3:p.Pro233Leu
NM_001195610.1:c.698C>T NP_001182539.1:p.Pro233Leu
NM_016356.4:c.698C>T NP_057440.2:p.Pro233Leu
NM_016356.5:c.698C>T MANE Select NP_057440.2:p.Pro233Leu
NM_001195610.2:c.698C>T NP_001182539.1:p.Pro233Leu