Canonical Allele Identifier: CA431427707

Gene: DES

Linked Data

• ClinVar Variation Id: 518671
• ClinVar RCV Id: RCV000620114
• dbSNP Id: rs1553603407
• MyVariant Identifiers: chr2:g.220284984A>G (hg19) ; chr2:g.219420262A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420262A>G , CM000664.2:g.219420262A>G	GRCh38
NC_000002.11:g.220284984A>G , CM000664.1:g.220284984A>G	GRCh37
NC_000002.10:g.219993228A>G	NCBI36
NG_008043.1:g.6886A>G , LRG_380:g.6886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.125A>G
ENST00000683013.1:n.39A>G
ENST00000373960.4:c.651A>G MANE Select	ENSP00000363071.3:p.Ala217=
ENST00000373960.3:c.651A>G	ENSP00000363071.3:p.Ala217=
ENST00000477226.5:n.123A>G
ENST00000492726.1:n.46A>G
NM_001927.3:c.651A>G , LRG_380t1:c.651A>G	NP_001918.3:p.Ala217=
NM_001927.4:c.651A>G MANE Select	NP_001918.3:p.Ala217=
NM_001382708.1:c.648A>G	NP_001369637.1:p.Ala216=
NM_001382709.1:c.651A>G	NP_001369638.1:p.Ala217=
NM_001382710.1:c.651A>G	NP_001369639.1:p.Ala217=
NM_001382711.1:c.651A>G	NP_001369640.1:p.Ala217=
NM_001382712.1:c.651A>G	NP_001369641.1:p.Ala217=
NM_001382713.1:c.496-263A>G	NP_001369642.1:n.496-263A>G