Canonical Allele Identifier: CA3654764

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 1242218
• ClinVar RCV Id: RCV001648068
• dbSNP Id: rs75393533
• ExAC: 6:24302109 A / G
• gnomAD v2: 6-24302109-A-G
• gnomAD v3: 6-24301881-A-G
• gnomAD v4: 6-24301881-A-G
• MyVariant Identifiers: chr6:g.24302109A>G (hg19) ; chr6:g.24301881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24301881A>G , CM000668.2:g.24301881A>G	GRCh38
NC_000006.11:g.24302109A>G , CM000668.1:g.24302109A>G	GRCh37
NC_000006.10:g.24410088A>G	NCBI36
NG_012829.1:g.61172T>C
NG_012829.2:g.86412T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.426-35T>C MANE Select	ENSP00000367715.3:n.426-35T>C
ENST00000378454.7:c.426-35T>C	ENSP00000367715.3:n.426-35T>C
NM_001195610.1:c.426-35T>C	NP_001182539.1:n.426-35T>C
NM_016356.4:c.426-35T>C	NP_057440.2:n.426-35T>C
NM_016356.5:c.426-35T>C MANE Select	NP_057440.2:n.426-35T>C
NM_001195610.2:c.426-35T>C	NP_001182539.1:n.426-35T>C