Canonical Allele Identifier: CA448963049
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs1158742935
gnomAD v2: 6-24178576-A-C
gnomAD v4: 6-24178348-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178348A>C , CM000668.2:g.24178348A>C GRCh38
NC_000006.11:g.24178576A>C , CM000668.1:g.24178576A>C GRCh37
NC_000006.10:g.24286555A>C NCBI36
NG_012829.1:g.184705T>G
NG_012829.2:g.209945T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1308T>G MANE Select ENSP00000367715.3:p.Ala436=
ENST00000378450.6:c.567T>G ENSP00000367711.3:p.Ala189=
ENST00000378454.7:c.1308T>G ENSP00000367715.3:p.Ala436=
NM_001195610.1:c.1308T>G NP_001182539.1:p.Ala436=
NM_016356.4:c.1308T>G NP_057440.2:p.Ala436=
NM_016356.5:c.1308T>G MANE Select NP_057440.2:p.Ala436=
NM_001195610.2:c.1308T>G NP_001182539.1:p.Ala436=