Canonical Allele Identifier: CA350694775

Gene: DES

Linked Data

• ClinVar Variation Id: 1023917
• ClinVar RCV Id: RCV001324035
• dbSNP Id: rs1954443135
• MyVariant Identifiers: chr2:g.220286210T>G (hg19) ; chr2:g.219421488T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421488T>G , CM000664.2:g.219421488T>G	GRCh38
NC_000002.11:g.220286210T>G , CM000664.1:g.220286210T>G	GRCh37
NC_000002.10:g.219994454T>G	NCBI36
NG_008043.1:g.8112T>G , LRG_380:g.8112T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.646T>G
ENST00000683013.1:n.560T>G
ENST00000373960.4:c.1172T>G MANE Select	ENSP00000363071.3:p.Leu391Arg
ENST00000373960.3:c.1172T>G	ENSP00000363071.3:p.Leu391Arg
ENST00000477226.5:n.644T>G
ENST00000492726.1:n.567T>G
NM_001927.3:c.1172T>G , LRG_380t1:c.1172T>G	NP_001918.3:p.Leu391Arg
NM_001927.4:c.1172T>G MANE Select	NP_001918.3:p.Leu391Arg
NM_001382708.1:c.1169T>G	NP_001369637.1:p.Leu390Arg
NM_001382709.1:c.740T>G	NP_001369638.1:p.Leu247Arg
NM_001382710.1:c.1103T>G	NP_001369639.1:p.Leu368Arg
NM_001382711.1:c.1151T>G	NP_001369640.1:p.Leu384Arg
NM_001382712.1:c.1172T>G	NP_001369641.1:p.Leu391Arg
NM_001382713.1:c.902T>G	NP_001369642.1:p.Leu301Arg