Canonical Allele Identifier: CA363280014
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 595877
ClinVar RCV Id: RCV000731556 RCV004027011
dbSNP Id: rs1561878667
gnomAD v4: 6-24178439-C-T
MyVariant Identifiers: chr6:g.24178667C>T (hg19) chr6:g.24178439C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178439C>T , CM000668.2:g.24178439C>T GRCh38
NC_000006.11:g.24178667C>T , CM000668.1:g.24178667C>T GRCh37
NC_000006.10:g.24286646C>T NCBI36
NG_012829.1:g.184614G>A
NG_012829.2:g.209854G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1217G>A MANE Select ENSP00000367715.3:p.Gly406Glu
ENST00000378450.6:c.476G>A ENSP00000367711.3:p.Gly159Glu
ENST00000378454.7:c.1217G>A ENSP00000367715.3:p.Gly406Glu
NM_001195610.1:c.1217G>A NP_001182539.1:p.Gly406Glu
NM_016356.4:c.1217G>A NP_057440.2:p.Gly406Glu
NM_016356.5:c.1217G>A MANE Select NP_057440.2:p.Gly406Glu
NM_001195610.2:c.1217G>A NP_001182539.1:p.Gly406Glu
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