Canonical Allele Identifier: CA915944161
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 804454
ClinVar RCV Id: RCV000991435
dbSNP Id: rs1581640646

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24301723dup , CM000668.2:g.24301723dup GRCh38
NC_000006.11:g.24301951dup , CM000668.1:g.24301951dup GRCh37
NC_000006.10:g.24409930dup NCBI36
NG_012829.1:g.61330dup
NG_012829.2:g.86570dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.549dup MANE Select ENSP00000367715.3:p.Val184CysfsTer13
ENST00000378454.7:c.549dup ENSP00000367715.3:p.Val184CysfsTer13
NM_001195610.1:c.549dup NP_001182539.1:p.Val184CysfsTer13
NM_016356.4:c.549dup NP_057440.2:p.Val184CysfsTer13
NM_016356.5:c.549dup MANE Select NP_057440.2:p.Val184CysfsTer13
NM_001195610.2:c.549dup NP_001182539.1:p.Val184CysfsTer13