Canonical Allele Identifier: CA136637324
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 417769
dbSNP Id: rs904944428

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24301748dup , CM000668.2:g.24301748dup GRCh38
NC_000006.11:g.24301976dup , CM000668.1:g.24301976dup GRCh37
NC_000006.10:g.24409955dup NCBI36
NG_012829.1:g.61310dup
NG_012829.2:g.86550dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.529dup MANE Select ENSP00000367715.3:p.Ile177AsnfsTer20
ENST00000378454.7:c.529dup ENSP00000367715.3:p.Ile177AsnfsTer20
NM_001195610.1:c.529dup NP_001182539.1:p.Ile177AsnfsTer20
NM_016356.4:c.529dup NP_057440.2:p.Ile177AsnfsTer20
NM_016356.5:c.529dup MANE Select NP_057440.2:p.Ile177AsnfsTer20
NM_001195610.2:c.529dup NP_001182539.1:p.Ile177AsnfsTer20