Canonical Allele Identifier: CA350699256

Gene: DES

Linked Data

• ClinVar Variation Id: 949378
• ClinVar RCV Id: RCV001220826
• dbSNP Id: rs1954528633
• MyVariant Identifiers: chr2:g.220290708T>C (hg19) ; chr2:g.219425986T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425986T>C , CM000664.2:g.219425986T>C	GRCh38
NC_000002.11:g.220290708T>C , CM000664.1:g.220290708T>C	GRCh37
NC_000002.10:g.219998952T>C	NCBI36
NG_008043.1:g.12610T>C , LRG_380:g.12610T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.883T>C
ENST00000683013.1:n.797T>C
ENST00000373960.4:c.1409T>C MANE Select	ENSP00000363071.3:p.Leu470Pro
ENST00000373960.3:c.1409T>C	ENSP00000363071.3:p.Leu470Pro
ENST00000483395.1:n.264T>C
NM_001927.3:c.1409T>C , LRG_380t1:c.1409T>C	NP_001918.3:p.Leu470Pro
NM_001927.4:c.1409T>C MANE Select	NP_001918.3:p.Leu470Pro
NM_001382708.1:c.1406T>C	NP_001369637.1:p.Leu469Pro
NM_001382709.1:c.977T>C	NP_001369638.1:p.Leu326Pro
NM_001382710.1:c.1340T>C	NP_001369639.1:p.Leu447Pro
NM_001382711.1:c.1388T>C	NP_001369640.1:p.Leu463Pro
NM_001382712.1:c.1371+241T>C	NP_001369641.1:n.1371+241T>C
NM_001382713.1:c.1139T>C	NP_001369642.1:p.Leu380Pro