Canonical Allele Identifier: CA3654692
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3032679
ClinVar RCV Id: RCV003894322
dbSNP Id: rs779147188
gnomAD v2: 6-24291154-A-G
gnomAD v3: 6-24290926-A-G
gnomAD v4: 6-24290926-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290926A>G , CM000668.2:g.24290926A>G GRCh38
NC_000006.11:g.24291154A>G , CM000668.1:g.24291154A>G GRCh37
NC_000006.10:g.24399133A>G NCBI36
NG_012829.1:g.72127T>C
NG_012829.2:g.97367T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.704+6T>C MANE Select ENSP00000367715.3:n.704+6T>C
ENST00000378454.7:c.704+6T>C ENSP00000367715.3:n.704+6T>C
NM_001195610.1:c.704+6T>C NP_001182539.1:n.704+6T>C
NM_016356.4:c.704+6T>C NP_057440.2:n.704+6T>C
NM_016356.5:c.704+6T>C MANE Select NP_057440.2:n.704+6T>C
NM_001195610.2:c.704+6T>C NP_001182539.1:n.704+6T>C