Canonical Allele Identifier: CA363280256
Gene: DCDC2 HGNC NCBI

Linked Data

gnomAD v4: 6-24178481-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178481A>C , CM000668.2:g.24178481A>C GRCh38
NC_000006.11:g.24178709A>C , CM000668.1:g.24178709A>C GRCh37
NC_000006.10:g.24286688A>C NCBI36
NG_012829.1:g.184572T>G
NG_012829.2:g.209812T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1175T>G MANE Select ENSP00000367715.3:p.Leu392Arg
ENST00000378450.6:c.434T>G ENSP00000367711.3:p.Leu145Arg
ENST00000378454.7:c.1175T>G ENSP00000367715.3:p.Leu392Arg
NM_001195610.1:c.1175T>G NP_001182539.1:p.Leu392Arg
NM_016356.4:c.1175T>G NP_057440.2:p.Leu392Arg
NM_016356.5:c.1175T>G MANE Select NP_057440.2:p.Leu392Arg
NM_001195610.2:c.1175T>G NP_001182539.1:p.Leu392Arg