Canonical Allele Identifier: CA431284351

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286148G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421426G>A , CM000664.2:g.219421426G>A	GRCh38
NC_000002.11:g.220286148G>A , CM000664.1:g.220286148G>A	GRCh37
NC_000002.10:g.219994392G>A	NCBI36
NG_008043.1:g.8050G>A , LRG_380:g.8050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.584G>A
ENST00000683013.1:n.498G>A
ENST00000373960.4:c.1110G>A MANE Select	ENSP00000363071.3:p.Leu370=
ENST00000373960.3:c.1110G>A	ENSP00000363071.3:p.Leu370=
ENST00000477226.5:n.582G>A
ENST00000492726.1:n.505G>A
NM_001927.3:c.1110G>A , LRG_380t1:c.1110G>A	NP_001918.3:p.Leu370=
NM_001927.4:c.1110G>A MANE Select	NP_001918.3:p.Leu370=
NM_001382708.1:c.1107G>A	NP_001369637.1:p.Leu369=
NM_001382709.1:c.736-58G>A	NP_001369638.1:n.736-58G>A
NM_001382710.1:c.1041G>A	NP_001369639.1:p.Leu347=
NM_001382711.1:c.1089G>A	NP_001369640.1:p.Leu363=
NM_001382712.1:c.1110G>A	NP_001369641.1:p.Leu370=
NM_001382713.1:c.840G>A	NP_001369642.1:p.Leu280=