Canonical Allele Identifier: CA363278646

Gene: DCDC2

Linked Data

• gnomAD v4: 6-24174788-G-A
• MyVariant Identifiers: chr6:g.24175016G>A (hg19) ; chr6:g.24174788G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24174788G>A , CM000668.2:g.24174788G>A	GRCh38
NC_000006.11:g.24175016G>A , CM000668.1:g.24175016G>A	GRCh37
NC_000006.10:g.24282995G>A	NCBI36
NG_012829.1:g.188265C>T
NG_012829.2:g.213505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.1373C>T MANE Select	ENSP00000367715.3:p.Thr458Ile
ENST00000378450.6:c.632C>T	ENSP00000367711.3:p.Thr211Ile
ENST00000378454.7:c.1373C>T	ENSP00000367715.3:p.Thr458Ile
NM_001195610.1:c.1373C>T	NP_001182539.1:p.Thr458Ile
NM_016356.4:c.1373C>T	NP_057440.2:p.Thr458Ile
NM_016356.5:c.1373C>T MANE Select	NP_057440.2:p.Thr458Ile
NM_001195610.2:c.1373C>T	NP_001182539.1:p.Thr458Ile