Canonical Allele Identifier: CA233898

Gene: DES

Linked Data

• ClinVar Variation Id: 44246
• ClinVar RCV Id: RCV000037226 ; RCV000464462 ; RCV001171065 ; RCV001705670 ; RCV002453311 ; RCV002490504 ; RCV003944905
• dbSNP Id: rs368901105
• ExAC: 2:220283298 G / A
• gnomAD v2: 2-220283298-G-A
• gnomAD v3: 2-219418576-G-A
• gnomAD v4: 2-219418576-G-A
• MyVariant Identifiers: chr2:g.220283298G>A (hg19) ; chr2:g.219418576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418576G>A , CM000664.2:g.219418576G>A	GRCh38
NC_000002.11:g.220283298G>A , CM000664.1:g.220283298G>A	GRCh37
NC_000002.10:g.219991542G>A	NCBI36
NG_008043.1:g.5200G>A , LRG_380:g.5200G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.114G>A MANE Select	ENSP00000363071.3:p.Ala38=
ENST00000373960.3:c.114G>A	ENSP00000363071.3:p.Ala38=
NM_001927.3:c.114G>A , LRG_380t1:c.114G>A	NP_001918.3:p.Ala38=
NM_001927.4:c.114G>A MANE Select	NP_001918.3:p.Ala38=
NM_001382708.1:c.114G>A	NP_001369637.1:p.Ala38=
NM_001382709.1:c.114G>A	NP_001369638.1:p.Ala38=
NM_001382710.1:c.114G>A	NP_001369639.1:p.Ala38=
NM_001382711.1:c.114G>A	NP_001369640.1:p.Ala38=
NM_001382712.1:c.114G>A	NP_001369641.1:p.Ala38=
NM_001382713.1:c.114G>A	NP_001369642.1:p.Ala38=