Canonical Allele Identifier: CA431284508

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286271A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421549A>T , CM000664.2:g.219421549A>T	GRCh38
NC_000002.11:g.220286271A>T , CM000664.1:g.220286271A>T	GRCh37
NC_000002.10:g.219994515A>T	NCBI36
NG_008043.1:g.8173A>T , LRG_380:g.8173A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.707A>T
ENST00000683013.1:n.621A>T
ENST00000373960.4:c.1233A>T MANE Select	ENSP00000363071.3:p.Gly411=
ENST00000373960.3:c.1233A>T	ENSP00000363071.3:p.Gly411=
ENST00000477226.5:n.705A>T
ENST00000492726.1:n.628A>T
NM_001927.3:c.1233A>T , LRG_380t1:c.1233A>T	NP_001918.3:p.Gly411=
NM_001927.4:c.1233A>T MANE Select	NP_001918.3:p.Gly411=
NM_001382708.1:c.1230A>T	NP_001369637.1:p.Gly410=
NM_001382709.1:c.801A>T	NP_001369638.1:p.Gly267=
NM_001382710.1:c.1164A>T	NP_001369639.1:p.Gly388=
NM_001382711.1:c.1212A>T	NP_001369640.1:p.Gly404=
NM_001382712.1:c.1233A>T	NP_001369641.1:p.Gly411=
NM_001382713.1:c.963A>T	NP_001369642.1:p.Gly321=