Canonical Allele Identifier: CA3654697
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs374355407
gnomAD v2: 6-24291178-G-A
gnomAD v3: 6-24290950-G-A
gnomAD v4: 6-24290950-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290950G>A , CM000668.2:g.24290950G>A GRCh38
NC_000006.11:g.24291178G>A , CM000668.1:g.24291178G>A GRCh37
NC_000006.10:g.24399157G>A NCBI36
NG_012829.1:g.72103C>T
NG_012829.2:g.97343C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.686C>T MANE Select ENSP00000367715.3:p.Thr229Met
ENST00000378454.7:c.686C>T ENSP00000367715.3:p.Thr229Met
NM_001195610.1:c.686C>T NP_001182539.1:p.Thr229Met
NM_016356.4:c.686C>T NP_057440.2:p.Thr229Met
NM_016356.5:c.686C>T MANE Select NP_057440.2:p.Thr229Met
NM_001195610.2:c.686C>T NP_001182539.1:p.Thr229Met