Canonical Allele Identifier: CA350694510

Gene: DES

Linked Data

• dbSNP Id: rs1283089074
• gnomAD v2: 2-220286178-G-C
• gnomAD v4: 2-219421456-G-C
• MyVariant Identifiers: chr2:g.220286178G>C (hg19) ; chr2:g.219421456G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421456G>C , CM000664.2:g.219421456G>C	GRCh38
NC_000002.11:g.220286178G>C , CM000664.1:g.220286178G>C	GRCh37
NC_000002.10:g.219994422G>C	NCBI36
NG_008043.1:g.8080G>C , LRG_380:g.8080G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.614G>C
ENST00000683013.1:n.528G>C
ENST00000373960.4:c.1140G>C MANE Select	ENSP00000363071.3:p.Glu380Asp
ENST00000373960.3:c.1140G>C	ENSP00000363071.3:p.Glu380Asp
ENST00000477226.5:n.612G>C
ENST00000492726.1:n.535G>C
NM_001927.3:c.1140G>C , LRG_380t1:c.1140G>C	NP_001918.3:p.Glu380Asp
NM_001927.4:c.1140G>C MANE Select	NP_001918.3:p.Glu380Asp
NM_001382708.1:c.1137G>C	NP_001369637.1:p.Glu379Asp
NM_001382709.1:c.736-28G>C	NP_001369638.1:n.736-28G>C
NM_001382710.1:c.1071G>C	NP_001369639.1:p.Glu357Asp
NM_001382711.1:c.1119G>C	NP_001369640.1:p.Glu373Asp
NM_001382712.1:c.1140G>C	NP_001369641.1:p.Glu380Asp
NM_001382713.1:c.870G>C	NP_001369642.1:p.Glu290Asp