Canonical Allele Identifier: CA3654698

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 516888
• ClinVar RCV Id: RCV001521758 ; RCV001662651 ; RCV001662652 ; RCV001662653
• dbSNP Id: rs2274305
• ExAC: 6:24291203 T / C
• gnomAD v2: 6-24291203-T-C
• gnomAD v3: 6-24290975-T-C
• gnomAD v4: 6-24290975-T-C
• MyVariant Identifiers: chr6:g.24291203T>C (hg19) ; chr6:g.24290975T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24290975T>C , CM000668.2:g.24290975T>C	GRCh38
NC_000006.11:g.24291203T>C , CM000668.1:g.24291203T>C	GRCh37
NC_000006.10:g.24399182T>C	NCBI36
NG_012829.1:g.72078A>G
NG_012829.2:g.97318A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378454.8:c.661A>G MANE Select	ENSP00000367715.3:p.Ser221Gly
ENST00000378454.7:c.661A>G	ENSP00000367715.3:p.Ser221Gly
NM_001195610.1:c.661A>G	NP_001182539.1:p.Ser221Gly
NM_016356.4:c.661A>G	NP_057440.2:p.Ser221Gly
NM_016356.5:c.661A>G MANE Select	NP_057440.2:p.Ser221Gly
NM_001195610.2:c.661A>G	NP_001182539.1:p.Ser221Gly