Canonical Allele Identifier: CA136622201
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs530744307
gnomAD v3: 6-24178270-C-T
gnomAD v4: 6-24178270-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178270C>T , CM000668.2:g.24178270C>T GRCh38
NC_000006.11:g.24178498C>T , CM000668.1:g.24178498C>T GRCh37
NC_000006.10:g.24286477C>T NCBI36
NG_012829.1:g.184783G>A
NG_012829.2:g.210023G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1326+60G>A MANE Select ENSP00000367715.3:n.1326+60G>A
ENST00000378450.6:c.585+60G>A ENSP00000367711.3:n.585+60G>A
ENST00000378454.7:c.1326+60G>A ENSP00000367715.3:n.1326+60G>A
NM_001195610.1:c.1326+60G>A NP_001182539.1:n.1326+60G>A
NM_016356.4:c.1326+60G>A NP_057440.2:n.1326+60G>A
NM_016356.5:c.1326+60G>A MANE Select NP_057440.2:n.1326+60G>A
NM_001195610.2:c.1326+60G>A NP_001182539.1:n.1326+60G>A