Canonical Allele Identifier: CA431427679

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220285315G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420593G>T , CM000664.2:g.219420593G>T	GRCh38
NC_000002.11:g.220285315G>T , CM000664.1:g.220285315G>T	GRCh37
NC_000002.10:g.219993559G>T	NCBI36
NG_008043.1:g.7217G>T , LRG_380:g.7217G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.308G>T
ENST00000683013.1:n.222G>T
ENST00000373960.4:c.834G>T MANE Select	ENSP00000363071.3:p.Arg278=
ENST00000373960.3:c.834G>T	ENSP00000363071.3:p.Arg278=
ENST00000477226.5:n.306G>T
ENST00000492726.1:n.229G>T
NM_001927.3:c.834G>T , LRG_380t1:c.834G>T	NP_001918.3:p.Arg278=
NM_001927.4:c.834G>T MANE Select	NP_001918.3:p.Arg278=
NM_001382708.1:c.831G>T	NP_001369637.1:p.Arg277=
NM_001382709.1:c.735+247G>T	NP_001369638.1:n.735+247G>T
NM_001382710.1:c.834G>T	NP_001369639.1:p.Arg278=
NM_001382711.1:c.834G>T	NP_001369640.1:p.Arg278=
NM_001382712.1:c.834G>T	NP_001369641.1:p.Arg278=
NM_001382713.1:c.564G>T	NP_001369642.1:p.Arg188=