Canonical Allele Identifier: CA431284265

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286118C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421396C>A , CM000664.2:g.219421396C>A	GRCh38
NC_000002.11:g.220286118C>A , CM000664.1:g.220286118C>A	GRCh37
NC_000002.10:g.219994362C>A	NCBI36
NG_008043.1:g.8020C>A , LRG_380:g.8020C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.554C>A
ENST00000683013.1:n.468C>A
ENST00000373960.4:c.1080C>A MANE Select	ENSP00000363071.3:p.Ala360=
ENST00000373960.3:c.1080C>A	ENSP00000363071.3:p.Ala360=
ENST00000477226.5:n.552C>A
ENST00000492726.1:n.475C>A
NM_001927.3:c.1080C>A , LRG_380t1:c.1080C>A	NP_001918.3:p.Ala360=
NM_001927.4:c.1080C>A MANE Select	NP_001918.3:p.Ala360=
NM_001382708.1:c.1077C>A	NP_001369637.1:p.Ala359=
NM_001382709.1:c.736-88C>A	NP_001369638.1:n.736-88C>A
NM_001382710.1:c.1024-13C>A	NP_001369639.1:n.1024-13C>A
NM_001382711.1:c.1059C>A	NP_001369640.1:p.Ala353=
NM_001382712.1:c.1080C>A	NP_001369641.1:p.Ala360=
NM_001382713.1:c.810C>A	NP_001369642.1:p.Ala270=