Canonical Allele Identifier: CA350695027

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286257A>G (hg19) ; chr2:g.219421535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421535A>G , CM000664.2:g.219421535A>G	GRCh38
NC_000002.11:g.220286257A>G , CM000664.1:g.220286257A>G	GRCh37
NC_000002.10:g.219994501A>G	NCBI36
NG_008043.1:g.8159A>G , LRG_380:g.8159A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.693A>G
ENST00000683013.1:n.607A>G
ENST00000373960.4:c.1219A>G MANE Select	ENSP00000363071.3:p.Lys407Glu
ENST00000373960.3:c.1219A>G	ENSP00000363071.3:p.Lys407Glu
ENST00000477226.5:n.691A>G
ENST00000492726.1:n.614A>G
NM_001927.3:c.1219A>G , LRG_380t1:c.1219A>G	NP_001918.3:p.Lys407Glu
NM_001927.4:c.1219A>G MANE Select	NP_001918.3:p.Lys407Glu
NM_001382708.1:c.1216A>G	NP_001369637.1:p.Lys406Glu
NM_001382709.1:c.787A>G	NP_001369638.1:p.Lys263Glu
NM_001382710.1:c.1150A>G	NP_001369639.1:p.Lys384Glu
NM_001382711.1:c.1198A>G	NP_001369640.1:p.Lys400Glu
NM_001382712.1:c.1219A>G	NP_001369641.1:p.Lys407Glu
NM_001382713.1:c.949A>G	NP_001369642.1:p.Lys317Glu