Canonical Allele Identifier: CA363280042
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs139858268
gnomAD v2: 6-24178676-C-A
gnomAD v4: 6-24178448-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178448C>A , CM000668.2:g.24178448C>A GRCh38
NC_000006.11:g.24178676C>A , CM000668.1:g.24178676C>A GRCh37
NC_000006.10:g.24286655C>A NCBI36
NG_012829.1:g.184605G>T
NG_012829.2:g.209845G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1208G>T MANE Select ENSP00000367715.3:p.Arg403Leu
ENST00000378450.6:c.467G>T ENSP00000367711.3:p.Arg156Leu
ENST00000378454.7:c.1208G>T ENSP00000367715.3:p.Arg403Leu
NM_001195610.1:c.1208G>T NP_001182539.1:p.Arg403Leu
NM_016356.4:c.1208G>T NP_057440.2:p.Arg403Leu
NM_016356.5:c.1208G>T MANE Select NP_057440.2:p.Arg403Leu
NM_001195610.2:c.1208G>T NP_001182539.1:p.Arg403Leu