Canonical Allele Identifier: CA350695076

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286269G>T (hg19) ; chr2:g.219421547G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421547G>T , CM000664.2:g.219421547G>T	GRCh38
NC_000002.11:g.220286269G>T , CM000664.1:g.220286269G>T	GRCh37
NC_000002.10:g.219994513G>T	NCBI36
NG_008043.1:g.8171G>T , LRG_380:g.8171G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.705G>T
ENST00000683013.1:n.619G>T
ENST00000373960.4:c.1231G>T MANE Select	ENSP00000363071.3:p.Gly411Ter
ENST00000373960.3:c.1231G>T	ENSP00000363071.3:p.Gly411Ter
ENST00000477226.5:n.703G>T
ENST00000492726.1:n.626G>T
NM_001927.3:c.1231G>T , LRG_380t1:c.1231G>T	NP_001918.3:p.Gly411Ter
NM_001927.4:c.1231G>T MANE Select	NP_001918.3:p.Gly411Ter
NM_001382708.1:c.1228G>T	NP_001369637.1:p.Gly410Ter
NM_001382709.1:c.799G>T	NP_001369638.1:p.Gly267Ter
NM_001382710.1:c.1162G>T	NP_001369639.1:p.Gly388Ter
NM_001382711.1:c.1210G>T	NP_001369640.1:p.Gly404Ter
NM_001382712.1:c.1231G>T	NP_001369641.1:p.Gly411Ter
NM_001382713.1:c.961G>T	NP_001369642.1:p.Gly321Ter