Canonical Allele Identifier: CA136635964
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs537710214
gnomAD v2: 6-24290641-T-A
gnomAD v3: 6-24290413-T-A
gnomAD v4: 6-24290413-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290413T>A , CM000668.2:g.24290413T>A GRCh38
NC_000006.11:g.24290641T>A , CM000668.1:g.24290641T>A GRCh37
NC_000006.10:g.24398620T>A NCBI36
NG_012829.1:g.72640A>T
NG_012829.2:g.97880A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.704+519A>T MANE Select ENSP00000367715.3:n.704+519A>T
ENST00000378454.7:c.704+519A>T ENSP00000367715.3:n.704+519A>T
NM_001195610.1:c.704+519A>T NP_001182539.1:n.704+519A>T
NM_016356.4:c.704+519A>T NP_057440.2:n.704+519A>T
NM_016356.5:c.704+519A>T MANE Select NP_057440.2:n.704+519A>T
NM_001195610.2:c.704+519A>T NP_001182539.1:n.704+519A>T