Canonical Allele Identifier: CA363280306

Gene: DCDC2

Linked Data

• dbSNP Id: rs1760976718
• gnomAD v3: 6-24178493-A-G
• gnomAD v4: 6-24178493-A-G
• MyVariant Identifiers: chr6:g.24178721A>G (hg19) ; chr6:g.24178493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24178493A>G , CM000668.2:g.24178493A>G	GRCh38
NC_000006.11:g.24178721A>G , CM000668.1:g.24178721A>G	GRCh37
NC_000006.10:g.24286700A>G	NCBI36
NG_012829.1:g.184560T>C
NG_012829.2:g.209800T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378454.8:c.1163T>C MANE Select	ENSP00000367715.3:p.Val388Ala
ENST00000378450.6:c.422T>C	ENSP00000367711.3:p.Val141Ala
ENST00000378454.7:c.1163T>C	ENSP00000367715.3:p.Val388Ala
NM_001195610.1:c.1163T>C	NP_001182539.1:p.Val388Ala
NM_016356.4:c.1163T>C	NP_057440.2:p.Val388Ala
NM_016356.5:c.1163T>C MANE Select	NP_057440.2:p.Val388Ala
NM_001195610.2:c.1163T>C	NP_001182539.1:p.Val388Ala