Canonical Allele Identifier: CA136635999
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs1017204981
gnomAD v2: 6-24290974-G-T
gnomAD v3: 6-24290746-G-T
gnomAD v4: 6-24290746-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290746G>T , CM000668.2:g.24290746G>T GRCh38
NC_000006.11:g.24290974G>T , CM000668.1:g.24290974G>T GRCh37
NC_000006.10:g.24398953G>T NCBI36
NG_012829.1:g.72307C>A
NG_012829.2:g.97547C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.704+186C>A MANE Select ENSP00000367715.3:n.704+186C>A
ENST00000378454.7:c.704+186C>A ENSP00000367715.3:n.704+186C>A
NM_001195610.1:c.704+186C>A NP_001182539.1:n.704+186C>A
NM_016356.4:c.704+186C>A NP_057440.2:n.704+186C>A
NM_016356.5:c.704+186C>A MANE Select NP_057440.2:n.704+186C>A
NM_001195610.2:c.704+186C>A NP_001182539.1:n.704+186C>A