Canonical Allele Identifier: CA363278538

Gene: DCDC2

Linked Data

• dbSNP Id: rs1581566502
• gnomAD v4: 6-24174744-C-T
• MyVariant Identifiers: chr6:g.24174972C>T (hg19) ; chr6:g.24174744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24174744C>T , CM000668.2:g.24174744C>T	GRCh38
NC_000006.11:g.24174972C>T , CM000668.1:g.24174972C>T	GRCh37
NC_000006.10:g.24282951C>T	NCBI36
NG_012829.1:g.188309G>A
NG_012829.2:g.213549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.1417G>A MANE Select	ENSP00000367715.3:p.Ala473Thr
ENST00000378450.6:c.676G>A	ENSP00000367711.3:p.Ala226Thr
ENST00000378454.7:c.1417G>A	ENSP00000367715.3:p.Ala473Thr
NM_001195610.1:c.1417G>A	NP_001182539.1:p.Ala473Thr
NM_016356.4:c.1417G>A	NP_057440.2:p.Ala473Thr
NM_016356.5:c.1417G>A MANE Select	NP_057440.2:p.Ala473Thr
NM_001195610.2:c.1417G>A	NP_001182539.1:p.Ala473Thr