Canonical Allele Identifier: CA136622206
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs138279131
gnomAD v3: 6-24178344-T-C
gnomAD v4: 6-24178344-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178344T>C , CM000668.2:g.24178344T>C GRCh38
NC_000006.11:g.24178572T>C , CM000668.1:g.24178572T>C GRCh37
NC_000006.10:g.24286551T>C NCBI36
NG_012829.1:g.184709A>G
NG_012829.2:g.209949A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1312A>G MANE Select ENSP00000367715.3:p.Ser438Gly
ENST00000378450.6:c.571A>G ENSP00000367711.3:p.Ser191Gly
ENST00000378454.7:c.1312A>G ENSP00000367715.3:p.Ser438Gly
NM_001195610.1:c.1312A>G NP_001182539.1:p.Ser438Gly
NM_016356.4:c.1312A>G NP_057440.2:p.Ser438Gly
NM_016356.5:c.1312A>G MANE Select NP_057440.2:p.Ser438Gly
NM_001195610.2:c.1312A>G NP_001182539.1:p.Ser438Gly