Canonical Allele Identifier: CA363279678
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs1760971620
gnomAD v3: 6-24178350-C-T
gnomAD v4: 6-24178350-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178350C>T , CM000668.2:g.24178350C>T GRCh38
NC_000006.11:g.24178578C>T , CM000668.1:g.24178578C>T GRCh37
NC_000006.10:g.24286557C>T NCBI36
NG_012829.1:g.184703G>A
NG_012829.2:g.209943G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1306G>A MANE Select ENSP00000367715.3:p.Ala436Thr
ENST00000378450.6:c.565G>A ENSP00000367711.3:p.Ala189Thr
ENST00000378454.7:c.1306G>A ENSP00000367715.3:p.Ala436Thr
NM_001195610.1:c.1306G>A NP_001182539.1:p.Ala436Thr
NM_016356.4:c.1306G>A NP_057440.2:p.Ala436Thr
NM_016356.5:c.1306G>A MANE Select NP_057440.2:p.Ala436Thr
NM_001195610.2:c.1306G>A NP_001182539.1:p.Ala436Thr