Canonical Allele Identifier: CA350695063

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286266G>T (hg19) ; chr2:g.219421544G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421544G>T , CM000664.2:g.219421544G>T	GRCh38
NC_000002.11:g.220286266G>T , CM000664.1:g.220286266G>T	GRCh37
NC_000002.10:g.219994510G>T	NCBI36
NG_008043.1:g.8168G>T , LRG_380:g.8168G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.702G>T
ENST00000683013.1:n.616G>T
ENST00000373960.4:c.1228G>T MANE Select	ENSP00000363071.3:p.Glu410Ter
ENST00000373960.3:c.1228G>T	ENSP00000363071.3:p.Glu410Ter
ENST00000477226.5:n.700G>T
ENST00000492726.1:n.623G>T
NM_001927.3:c.1228G>T , LRG_380t1:c.1228G>T	NP_001918.3:p.Glu410Ter
NM_001927.4:c.1228G>T MANE Select	NP_001918.3:p.Glu410Ter
NM_001382708.1:c.1225G>T	NP_001369637.1:p.Glu409Ter
NM_001382709.1:c.796G>T	NP_001369638.1:p.Glu266Ter
NM_001382710.1:c.1159G>T	NP_001369639.1:p.Glu387Ter
NM_001382711.1:c.1207G>T	NP_001369640.1:p.Glu403Ter
NM_001382712.1:c.1228G>T	NP_001369641.1:p.Glu410Ter
NM_001382713.1:c.958G>T	NP_001369642.1:p.Glu320Ter