Canonical Allele Identifier: CA3654429

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 1230061
• ClinVar RCV Id: RCV001614518 ; RCV001658333 ; RCV001658331 ; RCV001658332
• dbSNP Id: rs9358755
• ExAC: 6:24174955 G / C
• gnomAD v2: 6-24174955-G-C
• gnomAD v3: 6-24174727-G-C
• gnomAD v4: 6-24174727-G-C
• MyVariant Identifiers: chr6:g.24174955G>C (hg19) ; chr6:g.24174727G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24174727G>C , CM000668.2:g.24174727G>C	GRCh38
NC_000006.11:g.24174955G>C , CM000668.1:g.24174955G>C	GRCh37
NC_000006.10:g.24282934G>C	NCBI36
NG_012829.1:g.188326C>G
NG_012829.2:g.213566C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.*3C>G MANE Select	ENSP00000367715.3:n.*3C>G
ENST00000378450.6:c.*3C>G	ENSP00000367711.3:n.*3C>G
ENST00000378454.7:c.*3C>G	ENSP00000367715.3:n.*3C>G
NM_001195610.1:c.*3C>G	NP_001182539.1:n.*3C>G
NM_016356.4:c.*3C>G	NP_057440.2:n.*3C>G
NM_016356.5:c.*3C>G MANE Select	NP_057440.2:n.*3C>G
NM_001195610.2:c.*3C>G	NP_001182539.1:n.*3C>G