Canonical Allele Identifier: CA363279757

Gene: DCDC2

Linked Data

• dbSNP Id: rs2113738392
• gnomAD v4: 6-24178370-T-C
• MyVariant Identifiers: chr6:g.24178598T>C (hg19) ; chr6:g.24178370T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24178370T>C , CM000668.2:g.24178370T>C	GRCh38
NC_000006.11:g.24178598T>C , CM000668.1:g.24178598T>C	GRCh37
NC_000006.10:g.24286577T>C	NCBI36
NG_012829.1:g.184683A>G
NG_012829.2:g.209923A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378454.8:c.1286A>G MANE Select	ENSP00000367715.3:p.Lys429Arg
ENST00000378450.6:c.545A>G	ENSP00000367711.3:p.Lys182Arg
ENST00000378454.7:c.1286A>G	ENSP00000367715.3:p.Lys429Arg
NM_001195610.1:c.1286A>G	NP_001182539.1:p.Lys429Arg
NM_016356.4:c.1286A>G	NP_057440.2:p.Lys429Arg
NM_016356.5:c.1286A>G MANE Select	NP_057440.2:p.Lys429Arg
NM_001195610.2:c.1286A>G	NP_001182539.1:p.Lys429Arg