Canonical Allele Identifier: CA10605881

Gene: DES

Linked Data

• ClinVar Variation Id: 287812
• ClinVar RCV Id: RCV000287300 ; RCV003765652
• dbSNP Id: rs796667045
• MyVariant Identifiers: chr2:g.220288510C>T (hg19) ; chr2:g.219423788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219423788C>T , CM000664.2:g.219423788C>T	GRCh38
NC_000002.11:g.220288510C>T , CM000664.1:g.220288510C>T	GRCh37
NC_000002.10:g.219996754C>T	NCBI36
NG_008043.1:g.10412C>T , LRG_380:g.10412C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.730C>T
ENST00000683013.1:n.644C>T
ENST00000373960.4:c.1256C>T MANE Select	ENSP00000363071.3:p.Pro419Leu
ENST00000373960.3:c.1256C>T	ENSP00000363071.3:p.Pro419Leu
ENST00000477226.5:n.728C>T
ENST00000492726.1:n.651C>T
NM_001927.3:c.1256C>T , LRG_380t1:c.1256C>T	NP_001918.3:p.Pro419Leu
NM_001927.4:c.1256C>T MANE Select	NP_001918.3:p.Pro419Leu
NM_001382708.1:c.1253C>T	NP_001369637.1:p.Pro418Leu
NM_001382709.1:c.824C>T	NP_001369638.1:p.Pro275Leu
NM_001382710.1:c.1187C>T	NP_001369639.1:p.Pro396Leu
NM_001382711.1:c.1235C>T	NP_001369640.1:p.Pro412Leu
NM_001382712.1:c.1256C>T	NP_001369641.1:p.Pro419Leu
NM_001382713.1:c.986C>T	NP_001369642.1:p.Pro329Leu