Canonical Allele Identifier: CA280061
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 161160
dbSNP Id: rs794729665

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178385T>G , CM000668.2:g.24178385T>G GRCh38
NC_000006.11:g.24178613T>G , CM000668.1:g.24178613T>G GRCh37
NC_000006.10:g.24286592T>G NCBI36
NG_012829.1:g.184668A>C
NG_012829.2:g.209908A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1271A>C MANE Select ENSP00000367715.3:p.Gln424Pro
ENST00000378450.6:c.530A>C ENSP00000367711.3:p.Gln177Pro
ENST00000378454.7:c.1271A>C ENSP00000367715.3:p.Gln424Pro
NM_001195610.1:c.1271A>C NP_001182539.1:p.Gln424Pro
NM_016356.4:c.1271A>C NP_057440.2:p.Gln424Pro
NM_016356.5:c.1271A>C MANE Select NP_057440.2:p.Gln424Pro
NM_001195610.2:c.1271A>C NP_001182539.1:p.Gln424Pro