Canonical Allele Identifier: CA363277393

Gene: DCDC2

Linked Data

• gnomAD v4: 6-24205007-C-G
• MyVariant Identifiers: chr6:g.24205235C>G (hg19) ; chr6:g.24205007C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24205007C>G , CM000668.2:g.24205007C>G	GRCh38
NC_000006.11:g.24205235C>G , CM000668.1:g.24205235C>G	GRCh37
NC_000006.10:g.24313214C>G	NCBI36
NG_012829.1:g.158046G>C
NG_012829.2:g.183286G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.1018G>C MANE Select	ENSP00000367715.3:p.Asp340His
ENST00000378450.6:c.277G>C	ENSP00000367711.3:p.Asp93His
ENST00000378454.7:c.1018G>C	ENSP00000367715.3:p.Asp340His
NM_001195610.1:c.1018G>C	NP_001182539.1:p.Asp340His
NM_016356.4:c.1018G>C	NP_057440.2:p.Asp340His
NM_016356.5:c.1018G>C MANE Select	NP_057440.2:p.Asp340His
NM_001195610.2:c.1018G>C	NP_001182539.1:p.Asp340His