Canonical Allele Identifier: CA3654734
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 595441
ClinVar RCV Id: RCV000730986 RCV001088737 RCV003965526
dbSNP Id: rs141060456
ExAC: 6:24301957 G / A
gnomAD v2: 6-24301957-G-A
gnomAD v3: 6-24301729-G-A
gnomAD v4: 6-24301729-G-A
MyVariant Identifiers: chr6:g.24301957G>A (hg19) chr6:g.24301729G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24301729G>A , CM000668.2:g.24301729G>A GRCh38
NC_000006.11:g.24301957G>A , CM000668.1:g.24301957G>A GRCh37
NC_000006.10:g.24409936G>A NCBI36
NG_012829.1:g.61324C>T
NG_012829.2:g.86564C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.543C>T MANE Select ENSP00000367715.3:p.Ser181=
ENST00000378454.7:c.543C>T ENSP00000367715.3:p.Ser181=
NM_001195610.1:c.543C>T NP_001182539.1:p.Ser181=
NM_016356.4:c.543C>T NP_057440.2:p.Ser181=
NM_016356.5:c.543C>T MANE Select NP_057440.2:p.Ser181=
NM_001195610.2:c.543C>T NP_001182539.1:p.Ser181=
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