Canonical Allele Identifier: CA3654782
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 596798
ClinVar RCV Id: RCV000732745 RCV002061013 RCV003938118
dbSNP Id: rs142088541
ExAC: 6:24302219 C / T
gnomAD v2: 6-24302219-C-T
gnomAD v3: 6-24301991-C-T
gnomAD v4: 6-24301991-C-T
MyVariant Identifiers: chr6:g.24302219C>T (hg19) chr6:g.24301991C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24301991C>T , CM000668.2:g.24301991C>T GRCh38
NC_000006.11:g.24302219C>T , CM000668.1:g.24302219C>T GRCh37
NC_000006.10:g.24410198C>T NCBI36
NG_012829.1:g.61062G>A
NG_012829.2:g.86302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.402G>A MANE Select ENSP00000367715.3:p.Pro134=
ENST00000378454.7:c.402G>A ENSP00000367715.3:p.Pro134=
NM_001195610.1:c.402G>A NP_001182539.1:p.Pro134=
NM_016356.4:c.402G>A NP_057440.2:p.Pro134=
NM_016356.5:c.402G>A MANE Select NP_057440.2:p.Pro134=
NM_001195610.2:c.402G>A NP_001182539.1:p.Pro134=
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