Canonical Allele Identifier: CA3654438
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 739336
ClinVar RCV Id: RCV002065872
dbSNP Id: rs368603558
gnomAD v2: 6-24175045-T-C
gnomAD v3: 6-24174817-T-C
gnomAD v4: 6-24174817-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24174817T>C , CM000668.2:g.24174817T>C GRCh38
NC_000006.11:g.24175045T>C , CM000668.1:g.24175045T>C GRCh37
NC_000006.10:g.24283024T>C NCBI36
NG_012829.1:g.188236A>G
NG_012829.2:g.213476A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1344A>G MANE Select ENSP00000367715.3:p.Gln448=
ENST00000378450.6:c.603A>G ENSP00000367711.3:p.Gln201=
ENST00000378454.7:c.1344A>G ENSP00000367715.3:p.Gln448=
NM_001195610.1:c.1344A>G NP_001182539.1:p.Gln448=
NM_016356.4:c.1344A>G NP_057440.2:p.Gln448=
NM_016356.5:c.1344A>G MANE Select NP_057440.2:p.Gln448=
NM_001195610.2:c.1344A>G NP_001182539.1:p.Gln448=