Canonical Allele Identifier: CA363279646

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 1992833
• ClinVar RCV Id: RCV002796214
• MyVariant Identifiers: chr6:g.24178571C>A (hg19) ; chr6:g.24178343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24178343C>A , CM000668.2:g.24178343C>A	GRCh38
NC_000006.11:g.24178571C>A , CM000668.1:g.24178571C>A	GRCh37
NC_000006.10:g.24286550C>A	NCBI36
NG_012829.1:g.184710G>T
NG_012829.2:g.209950G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.1313G>T MANE Select	ENSP00000367715.3:p.Ser438Ile
ENST00000378450.6:c.572G>T	ENSP00000367711.3:p.Ser191Ile
ENST00000378454.7:c.1313G>T	ENSP00000367715.3:p.Ser438Ile
NM_001195610.1:c.1313G>T	NP_001182539.1:p.Ser438Ile
NM_016356.4:c.1313G>T	NP_057440.2:p.Ser438Ile
NM_016356.5:c.1313G>T MANE Select	NP_057440.2:p.Ser438Ile
NM_001195610.2:c.1313G>T	NP_001182539.1:p.Ser438Ile