Canonical Allele Identifier: CA350691478

Gene: DES

Linked Data

• ClinVar Variation Id: 2106428
• ClinVar RCV Id: RCV003026467 ; RCV003274148
• MyVariant Identifiers: chr2:g.220285326A>G (hg19) ; chr2:g.219420604A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420604A>G , CM000664.2:g.219420604A>G	GRCh38
NC_000002.11:g.220285326A>G , CM000664.1:g.220285326A>G	GRCh37
NC_000002.10:g.219993570A>G	NCBI36
NG_008043.1:g.7228A>G , LRG_380:g.7228A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.319A>G
ENST00000683013.1:n.233A>G
ENST00000373960.4:c.845A>G MANE Select	ENSP00000363071.3:p.Glu282Gly
ENST00000373960.3:c.845A>G	ENSP00000363071.3:p.Glu282Gly
ENST00000477226.5:n.317A>G
ENST00000492726.1:n.240A>G
NM_001927.3:c.845A>G , LRG_380t1:c.845A>G	NP_001918.3:p.Glu282Gly
NM_001927.4:c.845A>G MANE Select	NP_001918.3:p.Glu282Gly
NM_001382708.1:c.842A>G	NP_001369637.1:p.Glu281Gly
NM_001382709.1:c.735+258A>G	NP_001369638.1:n.735+258A>G
NM_001382710.1:c.845A>G	NP_001369639.1:p.Glu282Gly
NM_001382711.1:c.845A>G	NP_001369640.1:p.Glu282Gly
NM_001382712.1:c.845A>G	NP_001369641.1:p.Glu282Gly
NM_001382713.1:c.575A>G	NP_001369642.1:p.Glu192Gly