Canonical Allele Identifier: CA1616321945

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 1215327
• ClinVar RCV Id: RCV001585209
• dbSNP Id: rs9358755
• gnomAD v3: 6-24174727-G-A
• gnomAD v4: 6-24174727-G-A

Genomic Alleles

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

Transcript Alleles

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