Canonical Allele Identifier: CA539628927

Gene: DES

Linked Data

• dbSNP Id: rs1460073259
• gnomAD v2: 2-220286300-A-C
• gnomAD v4: 2-219421578-A-C
• MyVariant Identifiers: chr2:g.220286300A>C (hg19) ; chr2:g.219421578A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421578A>C , CM000664.2:g.219421578A>C	GRCh38
NC_000002.11:g.220286300A>C , CM000664.1:g.220286300A>C	GRCh37
NC_000002.10:g.219994544A>C	NCBI36
NG_008043.1:g.8202A>C , LRG_380:g.8202A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.718+18A>C
ENST00000683013.1:n.632+18A>C
ENST00000373960.4:c.1244+18A>C MANE Select	ENSP00000363071.3:n.1244+18A>C
ENST00000373960.3:c.1244+18A>C	ENSP00000363071.3:n.1244+18A>C
ENST00000477226.5:n.716+18A>C
ENST00000492726.1:n.639+18A>C
NM_001927.3:c.1244+18A>C , LRG_380t1:c.1244+18A>C	NP_001918.3:n.1244+18A>C
NM_001927.4:c.1244+18A>C MANE Select	NP_001918.3:n.1244+18A>C
NM_001382708.1:c.1241+18A>C	NP_001369637.1:n.1241+18A>C
NM_001382709.1:c.812+18A>C	NP_001369638.1:n.812+18A>C
NM_001382710.1:c.1175+18A>C	NP_001369639.1:n.1175+18A>C
NM_001382711.1:c.1223+18A>C	NP_001369640.1:n.1223+18A>C
NM_001382712.1:c.1244+18A>C	NP_001369641.1:n.1244+18A>C
NM_001382713.1:c.974+18A>C	NP_001369642.1:n.974+18A>C