Canonical Allele Identifier: CA363280659
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs1219067435
gnomAD v2: 6-24291269-C-T
gnomAD v4: 6-24291041-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24291041C>T , CM000668.2:g.24291041C>T GRCh38
NC_000006.11:g.24291269C>T , CM000668.1:g.24291269C>T GRCh37
NC_000006.10:g.24399248C>T NCBI36
NG_012829.1:g.72012G>A
NG_012829.2:g.97252G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.595G>A MANE Select ENSP00000367715.3:p.Ala199Thr
ENST00000378454.7:c.595G>A ENSP00000367715.3:p.Ala199Thr
NM_001195610.1:c.595G>A NP_001182539.1:p.Ala199Thr
NM_016356.4:c.595G>A NP_057440.2:p.Ala199Thr
NM_016356.5:c.595G>A MANE Select NP_057440.2:p.Ala199Thr
NM_001195610.2:c.595G>A NP_001182539.1:p.Ala199Thr