Canonical Allele Identifier: CA136635995
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs148005172
gnomAD v2: 6-24290935-C-T
gnomAD v3: 6-24290707-C-T
gnomAD v4: 6-24290707-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290707C>T , CM000668.2:g.24290707C>T GRCh38
NC_000006.11:g.24290935C>T , CM000668.1:g.24290935C>T GRCh37
NC_000006.10:g.24398914C>T NCBI36
NG_012829.1:g.72346G>A
NG_012829.2:g.97586G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.704+225G>A MANE Select ENSP00000367715.3:n.704+225G>A
ENST00000378454.7:c.704+225G>A ENSP00000367715.3:n.704+225G>A
NM_001195610.1:c.704+225G>A NP_001182539.1:n.704+225G>A
NM_016356.4:c.704+225G>A NP_057440.2:n.704+225G>A
NM_016356.5:c.704+225G>A MANE Select NP_057440.2:n.704+225G>A
NM_001195610.2:c.704+225G>A NP_001182539.1:n.704+225G>A