Canonical Allele Identifier: CA350691212

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220285286G>T (hg19) ; chr2:g.219420564G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420564G>T , CM000664.2:g.219420564G>T	GRCh38
NC_000002.11:g.220285286G>T , CM000664.1:g.220285286G>T	GRCh37
NC_000002.10:g.219993530G>T	NCBI36
NG_008043.1:g.7188G>T , LRG_380:g.7188G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.279G>T
ENST00000683013.1:n.193G>T
ENST00000373960.4:c.805G>T MANE Select	ENSP00000363071.3:p.Asp269Tyr
ENST00000373960.3:c.805G>T	ENSP00000363071.3:p.Asp269Tyr
ENST00000477226.5:n.277G>T
ENST00000492726.1:n.200G>T
NM_001927.3:c.805G>T , LRG_380t1:c.805G>T	NP_001918.3:p.Asp269Tyr
NM_001927.4:c.805G>T MANE Select	NP_001918.3:p.Asp269Tyr
NM_001382708.1:c.802G>T	NP_001369637.1:p.Asp268Tyr
NM_001382709.1:c.735+218G>T	NP_001369638.1:n.735+218G>T
NM_001382710.1:c.805G>T	NP_001369639.1:p.Asp269Tyr
NM_001382711.1:c.805G>T	NP_001369640.1:p.Asp269Tyr
NM_001382712.1:c.805G>T	NP_001369641.1:p.Asp269Tyr
NM_001382713.1:c.535G>T	NP_001369642.1:p.Asp179Tyr