Canonical Allele Identifier: CA350694194

Gene: DES

Linked Data

• ClinVar Variation Id: 2925199
• ClinVar RCV Id: RCV003780853 ; RCV004366525
• dbSNP Id: rs1472005530
• gnomAD v4: 2-219421413-A-G
• MyVariant Identifiers: chr2:g.220286135A>G (hg19) ; chr2:g.219421413A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421413A>G , CM000664.2:g.219421413A>G	GRCh38
NC_000002.11:g.220286135A>G , CM000664.1:g.220286135A>G	GRCh37
NC_000002.10:g.219994379A>G	NCBI36
NG_008043.1:g.8037A>G , LRG_380:g.8037A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.571A>G
ENST00000683013.1:n.485A>G
ENST00000373960.4:c.1097A>G MANE Select	ENSP00000363071.3:p.Asn366Ser
ENST00000373960.3:c.1097A>G	ENSP00000363071.3:p.Asn366Ser
ENST00000477226.5:n.569A>G
ENST00000492726.1:n.492A>G
NM_001927.3:c.1097A>G , LRG_380t1:c.1097A>G	NP_001918.3:p.Asn366Ser
NM_001927.4:c.1097A>G MANE Select	NP_001918.3:p.Asn366Ser
NM_001382708.1:c.1094A>G	NP_001369637.1:p.Asn365Ser
NM_001382709.1:c.736-71A>G	NP_001369638.1:n.736-71A>G
NM_001382710.1:c.1028A>G	NP_001369639.1:p.Asn343Ser
NM_001382711.1:c.1076A>G	NP_001369640.1:p.Asn359Ser
NM_001382712.1:c.1097A>G	NP_001369641.1:p.Asn366Ser
NM_001382713.1:c.827A>G	NP_001369642.1:p.Asn276Ser