Canonical Allele Identifier: CA3654470
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2159957
ClinVar RCV Id: RCV003086080 RCV003963617
dbSNP Id: rs755258271
ExAC: 6:24178612 T / C
gnomAD v2: 6-24178612-T-C
gnomAD v3: 6-24178384-T-C
gnomAD v4: 6-24178384-T-C
MyVariant Identifiers: chr6:g.24178612T>C (hg19) chr6:g.24178384T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178384T>C , CM000668.2:g.24178384T>C GRCh38
NC_000006.11:g.24178612T>C , CM000668.1:g.24178612T>C GRCh37
NC_000006.10:g.24286591T>C NCBI36
NG_012829.1:g.184669A>G
NG_012829.2:g.209909A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1272A>G MANE Select ENSP00000367715.3:p.Gln424=
ENST00000378450.6:c.531A>G ENSP00000367711.3:p.Gln177=
ENST00000378454.7:c.1272A>G ENSP00000367715.3:p.Gln424=
NM_001195610.1:c.1272A>G NP_001182539.1:p.Gln424=
NM_016356.4:c.1272A>G NP_057440.2:p.Gln424=
NM_016356.5:c.1272A>G MANE Select NP_057440.2:p.Gln424=
NM_001195610.2:c.1272A>G NP_001182539.1:p.Gln424=
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