Canonical Allele Identifier: CA764966549

Gene: DES

Linked Data

• dbSNP Id: rs1394530746
• gnomAD v4: 2-219421597-G-A
• MyVariant Identifiers: chr2:g.220286319G>A (hg19) ; chr2:g.219421597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421597G>A , CM000664.2:g.219421597G>A	GRCh38
NC_000002.11:g.220286319G>A , CM000664.1:g.220286319G>A	GRCh37
NC_000002.10:g.219994563G>A	NCBI36
NG_008043.1:g.8221G>A , LRG_380:g.8221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.718+37G>A
ENST00000683013.1:n.632+37G>A
ENST00000373960.4:c.1244+37G>A MANE Select	ENSP00000363071.3:n.1244+37G>A
ENST00000373960.3:c.1244+37G>A	ENSP00000363071.3:n.1244+37G>A
ENST00000477226.5:n.716+37G>A
ENST00000492726.1:n.639+37G>A
NM_001927.3:c.1244+37G>A , LRG_380t1:c.1244+37G>A	NP_001918.3:n.1244+37G>A
NM_001927.4:c.1244+37G>A MANE Select	NP_001918.3:n.1244+37G>A
NM_001382708.1:c.1241+37G>A	NP_001369637.1:n.1241+37G>A
NM_001382709.1:c.812+37G>A	NP_001369638.1:n.812+37G>A
NM_001382710.1:c.1175+37G>A	NP_001369639.1:n.1175+37G>A
NM_001382711.1:c.1223+37G>A	NP_001369640.1:n.1223+37G>A
NM_001382712.1:c.1244+37G>A	NP_001369641.1:n.1244+37G>A
NM_001382713.1:c.974+37G>A	NP_001369642.1:n.974+37G>A