Canonical Allele Identifier: CA448951165
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 593912
dbSNP Id: rs758802517
gnomAD v4: 6-24290940-C-T
MyVariant Identifiers: chr6:g.24291168C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290940C>T , CM000668.2:g.24290940C>T GRCh38
NC_000006.11:g.24291168C>T , CM000668.1:g.24291168C>T GRCh37
NC_000006.10:g.24399147C>T NCBI36
NG_012829.1:g.72113G>A
NG_012829.2:g.97353G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.696G>A MANE Select ENSP00000367715.3:p.Arg232=
ENST00000378454.7:c.696G>A ENSP00000367715.3:p.Arg232=
NM_001195610.1:c.696G>A NP_001182539.1:p.Arg232=
NM_016356.4:c.696G>A NP_057440.2:p.Arg232=
NM_016356.5:c.696G>A MANE Select NP_057440.2:p.Arg232=
NM_001195610.2:c.696G>A NP_001182539.1:p.Arg232=