Canonical Allele Identifier: CA3654701

Gene: DCDC2

Linked Data

• dbSNP Id: rs773965859
• ExAC: 6:24291218 T / C
• gnomAD v2: 6-24291218-T-C
• gnomAD v4: 6-24290990-T-C
• MyVariant Identifiers: chr6:g.24291218T>C (hg19) ; chr6:g.24290990T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24290990T>C , CM000668.2:g.24290990T>C	GRCh38
NC_000006.11:g.24291218T>C , CM000668.1:g.24291218T>C	GRCh37
NC_000006.10:g.24399197T>C	NCBI36
NG_012829.1:g.72063A>G
NG_012829.2:g.97303A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378454.8:c.646A>G MANE Select	ENSP00000367715.3:p.Lys216Glu
ENST00000378454.7:c.646A>G	ENSP00000367715.3:p.Lys216Glu
NM_001195610.1:c.646A>G	NP_001182539.1:p.Lys216Glu
NM_016356.4:c.646A>G	NP_057440.2:p.Lys216Glu
NM_016356.5:c.646A>G MANE Select	NP_057440.2:p.Lys216Glu
NM_001195610.2:c.646A>G	NP_001182539.1:p.Lys216Glu