Canonical Allele Identifier: CA352006

Gene: DES

Linked Data

• ClinVar Variation Id: 222543
• ClinVar RCV Id: RCV000208408
• dbSNP Id: rs869025380
• MyVariant Identifiers: chr2:g.220286272G>A (hg19) ; chr2:g.219421550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421550G>A , CM000664.2:g.219421550G>A	GRCh38
NC_000002.11:g.220286272G>A , CM000664.1:g.220286272G>A	GRCh37
NC_000002.10:g.219994516G>A	NCBI36
NG_008043.1:g.8174G>A , LRG_380:g.8174G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.708G>A
ENST00000683013.1:n.622G>A
ENST00000373960.4:c.1234G>A MANE Select	ENSP00000363071.3:p.Glu412Lys
ENST00000373960.3:c.1234G>A	ENSP00000363071.3:p.Glu412Lys
ENST00000477226.5:n.706G>A
ENST00000492726.1:n.629G>A
NM_001927.3:c.1234G>A , LRG_380t1:c.1234G>A	NP_001918.3:p.Glu412Lys
NM_001927.4:c.1234G>A MANE Select	NP_001918.3:p.Glu412Lys
NM_001382708.1:c.1231G>A	NP_001369637.1:p.Glu411Lys
NM_001382709.1:c.802G>A	NP_001369638.1:p.Glu268Lys
NM_001382710.1:c.1165G>A	NP_001369639.1:p.Glu389Lys
NM_001382711.1:c.1213G>A	NP_001369640.1:p.Glu405Lys
NM_001382712.1:c.1234G>A	NP_001369641.1:p.Glu412Lys
NM_001382713.1:c.964G>A	NP_001369642.1:p.Glu322Lys