Canonical Allele Identifier: CA431284493

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286250C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421528C>T , CM000664.2:g.219421528C>T	GRCh38
NC_000002.11:g.220286250C>T , CM000664.1:g.220286250C>T	GRCh37
NC_000002.10:g.219994494C>T	NCBI36
NG_008043.1:g.8152C>T , LRG_380:g.8152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.686C>T
ENST00000683013.1:n.600C>T
ENST00000373960.4:c.1212C>T MANE Select	ENSP00000363071.3:p.Thr404=
ENST00000373960.3:c.1212C>T	ENSP00000363071.3:p.Thr404=
ENST00000477226.5:n.684C>T
ENST00000492726.1:n.607C>T
NM_001927.3:c.1212C>T , LRG_380t1:c.1212C>T	NP_001918.3:p.Thr404=
NM_001927.4:c.1212C>T MANE Select	NP_001918.3:p.Thr404=
NM_001382708.1:c.1209C>T	NP_001369637.1:p.Thr403=
NM_001382709.1:c.780C>T	NP_001369638.1:p.Thr260=
NM_001382710.1:c.1143C>T	NP_001369639.1:p.Thr381=
NM_001382711.1:c.1191C>T	NP_001369640.1:p.Thr397=
NM_001382712.1:c.1212C>T	NP_001369641.1:p.Thr404=
NM_001382713.1:c.942C>T	NP_001369642.1:p.Thr314=