Canonical Allele Identifier: CA3654776
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1250526
dbSNP Id: rs77544788
gnomAD v2: 6-24302182-G-T
gnomAD v3: 6-24301954-G-T
gnomAD v4: 6-24301954-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24301954G>T , CM000668.2:g.24301954G>T GRCh38
NC_000006.11:g.24302182G>T , CM000668.1:g.24302182G>T GRCh37
NC_000006.10:g.24410161G>T NCBI36
NG_012829.1:g.61099C>A
NG_012829.2:g.86339C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.425+14C>A MANE Select ENSP00000367715.3:n.425+14C>A
ENST00000378454.7:c.425+14C>A ENSP00000367715.3:n.425+14C>A
NM_001195610.1:c.425+14C>A NP_001182539.1:n.425+14C>A
NM_016356.4:c.425+14C>A NP_057440.2:n.425+14C>A
NM_016356.5:c.425+14C>A MANE Select NP_057440.2:n.425+14C>A
NM_001195610.2:c.425+14C>A NP_001182539.1:n.425+14C>A