Canonical Allele Identifier: CA566224237

Gene: DCDC2

Linked Data

• dbSNP Id: rs1371313544
• gnomAD v2: 6-24348180-A-G
• gnomAD v3: 6-24347952-A-G
• gnomAD v4: 6-24347952-A-G
• MyVariant Identifiers: chr6:g.24348180A>G (hg19) ; chr6:g.24347952A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24347952A>G , CM000668.2:g.24347952A>G	GRCh38
NC_000006.11:g.24348180A>G , CM000668.1:g.24348180A>G	GRCh37
NC_000006.10:g.24456159A>G	NCBI36
NG_012829.1:g.15101T>C
NG_012829.2:g.40341T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378454.8:c.348+5617T>C MANE Select	ENSP00000367715.3:n.348+5617T>C
ENST00000378454.7:c.348+5617T>C	ENSP00000367715.3:n.348+5617T>C
NM_001195610.1:c.348+5617T>C	NP_001182539.1:n.348+5617T>C
NM_016356.4:c.348+5617T>C	NP_057440.2:n.348+5617T>C
NM_016356.5:c.348+5617T>C MANE Select	NP_057440.2:n.348+5617T>C
NM_001195610.2:c.348+5617T>C	NP_001182539.1:n.348+5617T>C