Canonical Allele Identifier: CA363279799
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs1405128595
gnomAD v2: 6-24178608-C-T
gnomAD v4: 6-24178380-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178380C>T , CM000668.2:g.24178380C>T GRCh38
NC_000006.11:g.24178608C>T , CM000668.1:g.24178608C>T GRCh37
NC_000006.10:g.24286587C>T NCBI36
NG_012829.1:g.184673G>A
NG_012829.2:g.209913G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1276G>A MANE Select ENSP00000367715.3:p.Val426Ile
ENST00000378450.6:c.535G>A ENSP00000367711.3:p.Val179Ile
ENST00000378454.7:c.1276G>A ENSP00000367715.3:p.Val426Ile
NM_001195610.1:c.1276G>A NP_001182539.1:p.Val426Ile
NM_016356.4:c.1276G>A NP_057440.2:p.Val426Ile
NM_016356.5:c.1276G>A MANE Select NP_057440.2:p.Val426Ile
NM_001195610.2:c.1276G>A NP_001182539.1:p.Val426Ile