Canonical Allele Identifier: CA3654729

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 1904109
• ClinVar RCV Id: RCV002577444
• dbSNP Id: rs775645058
• ExAC: 6:24301929 T / C
• gnomAD v2: 6-24301929-T-C
• gnomAD v3: 6-24301701-T-C
• gnomAD v4: 6-24301701-T-C
• MyVariant Identifiers: chr6:g.24301929T>C (hg19) ; chr6:g.24301701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24301701T>C , CM000668.2:g.24301701T>C	GRCh38
NC_000006.11:g.24301929T>C , CM000668.1:g.24301929T>C	GRCh37
NC_000006.10:g.24409908T>C	NCBI36
NG_012829.1:g.61352A>G
NG_012829.2:g.86592A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.557+14A>G MANE Select	ENSP00000367715.3:n.557+14A>G
ENST00000378454.7:c.557+14A>G	ENSP00000367715.3:n.557+14A>G
NM_001195610.1:c.557+14A>G	NP_001182539.1:n.557+14A>G
NM_016356.4:c.557+14A>G	NP_057440.2:n.557+14A>G
NM_016356.5:c.557+14A>G MANE Select	NP_057440.2:n.557+14A>G
NM_001195610.2:c.557+14A>G	NP_001182539.1:n.557+14A>G