Canonical Allele Identifier: CA3654733
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 594123
ClinVar RCV Id: RCV000729338 RCV001088392 RCV002535117
dbSNP Id: rs141060456
ExAC: 6:24301957 G / T
gnomAD v2: 6-24301957-G-T
gnomAD v3: 6-24301729-G-T
gnomAD v4: 6-24301729-G-T
MyVariant Identifiers: chr6:g.24301957G>T (hg19) chr6:g.24301729G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.543C>A MANE Select ENSP00000367715.3:p.Ser181Arg
ENST00000378454.7:c.543C>A ENSP00000367715.3:p.Ser181Arg
NM_001195610.1:c.543C>A NP_001182539.1:p.Ser181Arg
NM_016356.4:c.543C>A NP_057440.2:p.Ser181Arg
NM_016356.5:c.543C>A MANE Select NP_057440.2:p.Ser181Arg
NM_001195610.2:c.543C>A NP_001182539.1:p.Ser181Arg
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