Canonical Allele Identifier: CA3654790

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 838322
• ClinVar RCV Id: RCV001039850 ; RCV002497367 ; RCV004031119
• dbSNP Id: rs781510673
• ExAC: 6:24302272 C / T
• gnomAD v2: 6-24302272-C-T
• gnomAD v3: 6-24302044-C-T
• gnomAD v4: 6-24302044-C-T
• MyVariant Identifiers: chr6:g.24302272C>T (hg19) ; chr6:g.24302044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24302044C>T , CM000668.2:g.24302044C>T	GRCh38
NC_000006.11:g.24302272C>T , CM000668.1:g.24302272C>T	GRCh37
NC_000006.10:g.24410251C>T	NCBI36
NG_012829.1:g.61009G>A
NG_012829.2:g.86249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.349G>A MANE Select	ENSP00000367715.3:p.Val117Ile
ENST00000378454.7:c.349G>A	ENSP00000367715.3:p.Val117Ile
NM_001195610.1:c.349G>A	NP_001182539.1:p.Val117Ile
NM_016356.4:c.349G>A	NP_057440.2:p.Val117Ile
NM_016356.5:c.349G>A MANE Select	NP_057440.2:p.Val117Ile
NM_001195610.2:c.349G>A	NP_001182539.1:p.Val117Ile