Canonical Allele Identifier: CA539628928

Gene: DES

Linked Data

• ClinVar Variation Id: 1539325
• ClinVar RCV Id: RCV002162444
• dbSNP Id: rs1205670028
• gnomAD v2: 2-220286302-C-T
• gnomAD v4: 2-219421580-C-T
• MyVariant Identifiers: chr2:g.220286302C>T (hg19) ; chr2:g.219421580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421580C>T , CM000664.2:g.219421580C>T	GRCh38
NC_000002.11:g.220286302C>T , CM000664.1:g.220286302C>T	GRCh37
NC_000002.10:g.219994546C>T	NCBI36
NG_008043.1:g.8204C>T , LRG_380:g.8204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.718+20C>T
ENST00000683013.1:n.632+20C>T
ENST00000373960.4:c.1244+20C>T MANE Select	ENSP00000363071.3:n.1244+20C>T
ENST00000373960.3:c.1244+20C>T	ENSP00000363071.3:n.1244+20C>T
ENST00000477226.5:n.716+20C>T
ENST00000492726.1:n.639+20C>T
NM_001927.3:c.1244+20C>T , LRG_380t1:c.1244+20C>T	NP_001918.3:n.1244+20C>T
NM_001927.4:c.1244+20C>T MANE Select	NP_001918.3:n.1244+20C>T
NM_001382708.1:c.1241+20C>T	NP_001369637.1:n.1241+20C>T
NM_001382709.1:c.812+20C>T	NP_001369638.1:n.812+20C>T
NM_001382710.1:c.1175+20C>T	NP_001369639.1:n.1175+20C>T
NM_001382711.1:c.1223+20C>T	NP_001369640.1:n.1223+20C>T
NM_001382712.1:c.1244+20C>T	NP_001369641.1:n.1244+20C>T
NM_001382713.1:c.974+20C>T	NP_001369642.1:n.974+20C>T