Canonical Allele Identifier: CA3654625

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 466327
• ClinVar RCV Id: RCV000593870 ; RCV000841269 ; RCV003935459 ; RCV001081635 ; RCV002497134
• dbSNP Id: rs141519329
• ExAC: 6:24278344 T / C
• gnomAD v2: 6-24278344-T-C
• gnomAD v3: 6-24278116-T-C
• gnomAD v4: 6-24278116-T-C
• MyVariant Identifiers: chr6:g.24278344T>C (hg19) ; chr6:g.24278116T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24278116T>C , CM000668.2:g.24278116T>C	GRCh38
NC_000006.11:g.24278344T>C , CM000668.1:g.24278344T>C	GRCh37
NC_000006.10:g.24386323T>C	NCBI36
NG_012829.1:g.84937A>G
NG_012829.2:g.110177A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.855A>G MANE Select	ENSP00000367715.3:p.Ser285=
ENST00000378454.7:c.855A>G	ENSP00000367715.3:p.Ser285=
NM_001195610.1:c.855A>G	NP_001182539.1:p.Ser285=
NM_016356.4:c.855A>G	NP_057440.2:p.Ser285=
NM_016356.5:c.855A>G MANE Select	NP_057440.2:p.Ser285=
NM_001195610.2:c.855A>G	NP_001182539.1:p.Ser285=