Canonical Allele Identifier: CA764966079

Gene: DES

Linked Data

• dbSNP Id: rs1351502953
• gnomAD v4: 2-219421245-C-A
• MyVariant Identifiers: chr2:g.220285967C>A (hg19) ; chr2:g.219421245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421245C>A , CM000664.2:g.219421245C>A	GRCh38
NC_000002.11:g.220285967C>A , CM000664.1:g.220285967C>A	GRCh37
NC_000002.10:g.219994211C>A	NCBI36
NG_008043.1:g.7869C>A , LRG_380:g.7869C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.498-95C>A
ENST00000683013.1:n.412-95C>A
ENST00000373960.4:c.1024-95C>A MANE Select	ENSP00000363071.3:n.1024-95C>A
ENST00000373960.3:c.1024-95C>A	ENSP00000363071.3:n.1024-95C>A
ENST00000477226.5:n.496-95C>A
ENST00000492726.1:n.419-95C>A
NM_001927.3:c.1024-95C>A , LRG_380t1:c.1024-95C>A	NP_001918.3:n.1024-95C>A
NM_001927.4:c.1024-95C>A MANE Select	NP_001918.3:n.1024-95C>A
NM_001382708.1:c.1021-95C>A	NP_001369637.1:n.1021-95C>A
NM_001382709.1:c.736-239C>A	NP_001369638.1:n.736-239C>A
NM_001382710.1:c.1024-164C>A	NP_001369639.1:n.1024-164C>A
NM_001382711.1:c.1024-116C>A	NP_001369640.1:n.1024-116C>A
NM_001382712.1:c.1024-95C>A	NP_001369641.1:n.1024-95C>A
NM_001382713.1:c.754-95C>A	NP_001369642.1:n.754-95C>A