Canonical Allele Identifier: CA2125222

Gene: DES

Linked Data

• dbSNP Id: rs751244965
• ExAC: 2:220286041 TG / T
• gnomAD v2: 2-220286041-TG-T
• gnomAD v4: 2-219421319-TG-T
• MyVariant Identifiers: chr2:g.220286042del (hg19) ; chr2:g.219421320del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421322del , CM000664.2:g.219421322del	GRCh38
NC_000002.11:g.220286044del , CM000664.1:g.220286044del	GRCh37
NC_000002.10:g.219994288del	NCBI36
NG_008043.1:g.7946del , LRG_380:g.7946del

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.498-18del
ENST00000683013.1:n.412-18del
ENST00000373960.4:c.1024-18del MANE Select	ENSP00000363071.3:n.1024-18del
ENST00000373960.3:c.1024-18del	ENSP00000363071.3:n.1024-18del
ENST00000477226.5:n.496-18del
ENST00000492726.1:n.419-18del
NM_001927.3:c.1024-18del , LRG_380t1:c.1024-18del	NP_001918.3:n.1024-18del
NM_001927.4:c.1024-18del MANE Select	NP_001918.3:n.1024-18del
NM_001382708.1:c.1021-18del	NP_001369637.1:n.1021-18del
NM_001382709.1:c.736-162del	NP_001369638.1:n.736-162del
NM_001382710.1:c.1024-87del	NP_001369639.1:n.1024-87del
NM_001382711.1:c.1024-39del	NP_001369640.1:n.1024-39del
NM_001382712.1:c.1024-18del	NP_001369641.1:n.1024-18del
NM_001382713.1:c.754-18del	NP_001369642.1:n.754-18del