Canonical Allele Identifier: CA308252

Gene: DES

Linked Data

• ClinVar Variation Id: 201698
• ClinVar RCV Id: RCV000183342 ; RCV000275289 ; RCV000333461 ; RCV000386055 ; RCV002265669
• dbSNP Id: rs184826121
• ExAC: 2:220283141 G / A
• gnomAD v2: 2-220283141-G-A
• gnomAD v3: 2-219418419-G-A
• gnomAD v4: 2-219418419-G-A
• MyVariant Identifiers: chr2:g.220283141G>A (hg19) ; chr2:g.219418419G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418419G>A , CM000664.2:g.219418419G>A	GRCh38
NC_000002.11:g.220283141G>A , CM000664.1:g.220283141G>A	GRCh37
NC_000002.10:g.219991385G>A	NCBI36
NG_008043.1:g.5043G>A , LRG_380:g.5043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.-44G>A MANE Select	ENSP00000363071.3:n.-44G>A
ENST00000373960.3:c.-44G>A	ENSP00000363071.3:n.-44G>A
NM_001927.3:c.-44G>A , LRG_380t1:c.-44G>A	NP_001918.3:n.-44G>A
NM_001927.4:c.-44G>A MANE Select	NP_001918.3:n.-44G>A
NM_001382708.1:c.-44G>A	NP_001369637.1:n.-44G>A
NM_001382709.1:c.-44G>A	NP_001369638.1:n.-44G>A
NM_001382710.1:c.-44G>A	NP_001369639.1:n.-44G>A
NM_001382711.1:c.-44G>A	NP_001369640.1:n.-44G>A
NM_001382712.1:c.-44G>A	NP_001369641.1:n.-44G>A
NM_001382713.1:c.-44G>A	NP_001369642.1:n.-44G>A