Canonical Allele Identifier: CA539843255

Gene: DES

Linked Data

• dbSNP Id: rs1351118200
• gnomAD v2: 2-220286283-G-GA
• gnomAD v4: 2-219421561-G-GA
• MyVariant Identifiers: chr2:g.220286283_220286284insA (hg19) ; chr2:g.219421561_219421562insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421561_219421562insA , CM000664.2:g.219421561_219421562insA	GRCh38
NC_000002.11:g.220286283_220286284insA , CM000664.1:g.220286283_220286284insA	GRCh37
NC_000002.10:g.219994527_219994528insA	NCBI36
NG_008043.1:g.8185_8186insA , LRG_380:g.8185_8186insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.718+1_718+2insA
ENST00000683013.1:n.632+1_632+2insA
ENST00000373960.4:c.1244+1_1244+2insA MANE Select	ENSP00000363071.3:n.1244+1_1244+2insA
ENST00000373960.3:c.1244+1_1244+2insA	ENSP00000363071.3:n.1244+1_1244+2insA
ENST00000477226.5:n.716+1_716+2insA
ENST00000492726.1:n.639+1_639+2insA
NM_001927.3:c.1244+1_1244+2insA , LRG_380t1:c.1244+1_1244+2insA	NP_001918.3:n.1244+1_1244+2insA
NM_001927.4:c.1244+1_1244+2insA MANE Select	NP_001918.3:n.1244+1_1244+2insA
NM_001382708.1:c.1241+1_1241+2insA	NP_001369637.1:n.1241+1_1241+2insA
NM_001382709.1:c.812+1_812+2insA	NP_001369638.1:n.812+1_812+2insA
NM_001382710.1:c.1175+1_1175+2insA	NP_001369639.1:n.1175+1_1175+2insA
NM_001382711.1:c.1223+1_1223+2insA	NP_001369640.1:n.1223+1_1223+2insA
NM_001382712.1:c.1244+1_1244+2insA	NP_001369641.1:n.1244+1_1244+2insA
NM_001382713.1:c.974+1_974+2insA	NP_001369642.1:n.974+1_974+2insA