Canonical Allele Identifier: CA136642194
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs1032076540
gnomAD v3: 6-24347822-T-C
gnomAD v4: 6-24347822-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24347822T>C , CM000668.2:g.24347822T>C GRCh38
NC_000006.11:g.24348050T>C , CM000668.1:g.24348050T>C GRCh37
NC_000006.10:g.24456029T>C NCBI36
NG_012829.1:g.15231A>G
NG_012829.2:g.40471A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.348+5747A>G MANE Select ENSP00000367715.3:n.348+5747A>G
ENST00000378454.7:c.348+5747A>G ENSP00000367715.3:n.348+5747A>G
NM_001195610.1:c.348+5747A>G NP_001182539.1:n.348+5747A>G
NM_016356.4:c.348+5747A>G NP_057440.2:n.348+5747A>G
NM_016356.5:c.348+5747A>G MANE Select NP_057440.2:n.348+5747A>G
NM_001195610.2:c.348+5747A>G NP_001182539.1:n.348+5747A>G