Canonical Allele Identifier: CA363279895

Gene: DCDC2

Linked Data

• gnomAD v4: 6-24178410-G-C
• MyVariant Identifiers: chr6:g.24178638G>C (hg19) ; chr6:g.24178410G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24178410G>C , CM000668.2:g.24178410G>C	GRCh38
NC_000006.11:g.24178638G>C , CM000668.1:g.24178638G>C	GRCh37
NC_000006.10:g.24286617G>C	NCBI36
NG_012829.1:g.184643C>G
NG_012829.2:g.209883C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378454.8:c.1246C>G MANE Select	ENSP00000367715.3:p.Leu416Val
ENST00000378450.6:c.505C>G	ENSP00000367711.3:p.Leu169Val
ENST00000378454.7:c.1246C>G	ENSP00000367715.3:p.Leu416Val
NM_001195610.1:c.1246C>G	NP_001182539.1:p.Leu416Val
NM_016356.4:c.1246C>G	NP_057440.2:p.Leu416Val
NM_016356.5:c.1246C>G MANE Select	NP_057440.2:p.Leu416Val
NM_001195610.2:c.1246C>G	NP_001182539.1:p.Leu416Val