Canonical Allele Identifier: CA3654494
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs777259245
gnomAD v2: 6-24178686-G-A
gnomAD v3: 6-24178458-G-A
gnomAD v4: 6-24178458-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178458G>A , CM000668.2:g.24178458G>A GRCh38
NC_000006.11:g.24178686G>A , CM000668.1:g.24178686G>A GRCh37
NC_000006.10:g.24286665G>A NCBI36
NG_012829.1:g.184595C>T
NG_012829.2:g.209835C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1198C>T MANE Select ENSP00000367715.3:p.Arg400Cys
ENST00000378450.6:c.457C>T ENSP00000367711.3:p.Arg153Cys
ENST00000378454.7:c.1198C>T ENSP00000367715.3:p.Arg400Cys
NM_001195610.1:c.1198C>T NP_001182539.1:p.Arg400Cys
NM_016356.4:c.1198C>T NP_057440.2:p.Arg400Cys
NM_016356.5:c.1198C>T MANE Select NP_057440.2:p.Arg400Cys
NM_001195610.2:c.1198C>T NP_001182539.1:p.Arg400Cys