Canonical Allele Identifier: CA3654467
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1472214
ClinVar RCV Id: RCV002002842
dbSNP Id: rs375119774
ExAC: 6:24178601 T / A
gnomAD v2: 6-24178601-T-A
gnomAD v4: 6-24178373-T-A
MyVariant Identifiers: chr6:g.24178601T>A (hg19) chr6:g.24178373T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178373T>A , CM000668.2:g.24178373T>A GRCh38
NC_000006.11:g.24178601T>A , CM000668.1:g.24178601T>A GRCh37
NC_000006.10:g.24286580T>A NCBI36
NG_012829.1:g.184680A>T
NG_012829.2:g.209920A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1283A>T MANE Select ENSP00000367715.3:p.Asp428Val
ENST00000378450.6:c.542A>T ENSP00000367711.3:p.Asp181Val
ENST00000378454.7:c.1283A>T ENSP00000367715.3:p.Asp428Val
NM_001195610.1:c.1283A>T NP_001182539.1:p.Asp428Val
NM_016356.4:c.1283A>T NP_057440.2:p.Asp428Val
NM_016356.5:c.1283A>T MANE Select NP_057440.2:p.Asp428Val
NM_001195610.2:c.1283A>T NP_001182539.1:p.Asp428Val
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