Canonical Allele Identifier: CA363281353

Gene: DCDC2

Linked Data

• gnomAD v4: 6-24302044-C-A
• MyVariant Identifiers: chr6:g.24302272C>A (hg19) ; chr6:g.24302044C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24302044C>A , CM000668.2:g.24302044C>A	GRCh38
NC_000006.11:g.24302272C>A , CM000668.1:g.24302272C>A	GRCh37
NC_000006.10:g.24410251C>A	NCBI36
NG_012829.1:g.61009G>T
NG_012829.2:g.86249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.349G>T MANE Select	ENSP00000367715.3:p.Val117Leu
ENST00000378454.7:c.349G>T	ENSP00000367715.3:p.Val117Leu
NM_001195610.1:c.349G>T	NP_001182539.1:p.Val117Leu
NM_016356.4:c.349G>T	NP_057440.2:p.Val117Leu
NM_016356.5:c.349G>T MANE Select	NP_057440.2:p.Val117Leu
NM_001195610.2:c.349G>T	NP_001182539.1:p.Val117Leu