Canonical Allele Identifier: CA350694729

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286204A>T (hg19) ; chr2:g.219421482A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421482A>T , CM000664.2:g.219421482A>T	GRCh38
NC_000002.11:g.220286204A>T , CM000664.1:g.220286204A>T	GRCh37
NC_000002.10:g.219994448A>T	NCBI36
NG_008043.1:g.8106A>T , LRG_380:g.8106A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.640A>T
ENST00000683013.1:n.554A>T
ENST00000373960.4:c.1166A>T MANE Select	ENSP00000363071.3:p.Gln389Leu
ENST00000373960.3:c.1166A>T	ENSP00000363071.3:p.Gln389Leu
ENST00000477226.5:n.638A>T
ENST00000492726.1:n.561A>T
NM_001927.3:c.1166A>T , LRG_380t1:c.1166A>T	NP_001918.3:p.Gln389Leu
NM_001927.4:c.1166A>T MANE Select	NP_001918.3:p.Gln389Leu
NM_001382708.1:c.1163A>T	NP_001369637.1:p.Gln388Leu
NM_001382709.1:c.736-2A>T	NP_001369638.1:n.736-2A>T
NM_001382710.1:c.1097A>T	NP_001369639.1:p.Gln366Leu
NM_001382711.1:c.1145A>T	NP_001369640.1:p.Gln382Leu
NM_001382712.1:c.1166A>T	NP_001369641.1:p.Gln389Leu
NM_001382713.1:c.896A>T	NP_001369642.1:p.Gln299Leu