Canonical Allele Identifier: CA431284495

Gene: DES

Linked Data

• gnomAD v4: 2-219421532-C-A
• MyVariant Identifiers: chr2:g.220286254C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421532C>A , CM000664.2:g.219421532C>A	GRCh38
NC_000002.11:g.220286254C>A , CM000664.1:g.220286254C>A	GRCh37
NC_000002.10:g.219994498C>A	NCBI36
NG_008043.1:g.8156C>A , LRG_380:g.8156C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.690C>A
ENST00000683013.1:n.604C>A
ENST00000373960.4:c.1216C>A MANE Select	ENSP00000363071.3:p.Arg406=
ENST00000373960.3:c.1216C>A	ENSP00000363071.3:p.Arg406=
ENST00000477226.5:n.688C>A
ENST00000492726.1:n.611C>A
NM_001927.3:c.1216C>A , LRG_380t1:c.1216C>A	NP_001918.3:p.Arg406=
NM_001927.4:c.1216C>A MANE Select	NP_001918.3:p.Arg406=
NM_001382708.1:c.1213C>A	NP_001369637.1:p.Arg405=
NM_001382709.1:c.784C>A	NP_001369638.1:p.Arg262=
NM_001382710.1:c.1147C>A	NP_001369639.1:p.Arg383=
NM_001382711.1:c.1195C>A	NP_001369640.1:p.Arg399=
NM_001382712.1:c.1216C>A	NP_001369641.1:p.Arg406=
NM_001382713.1:c.946C>A	NP_001369642.1:p.Arg316=