Canonical Allele Identifier: CA2125057
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 955639
ClinVar RCV Id: RCV001228319
dbSNP Id: rs376048590
ExAC: 2:220283551 A / G
gnomAD v2: 2-220283551-A-G
gnomAD v3: 2-219418829-A-G
gnomAD v4: 2-219418829-A-G
MyVariant Identifiers: chr2:g.220283551A>G (hg19) chr2:g.219418829A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418829A>G , CM000664.2:g.219418829A>G GRCh38
NC_000002.11:g.220283551A>G , CM000664.1:g.220283551A>G GRCh37
NC_000002.10:g.219991795A>G NCBI36
NG_008043.1:g.5453A>G , LRG_380:g.5453A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.367A>G MANE Select ENSP00000363071.3:p.Ile123Val
ENST00000373960.3:c.367A>G ENSP00000363071.3:p.Ile123Val
NM_001927.3:c.367A>G , LRG_380t1:c.367A>G NP_001918.3:p.Ile123Val
NM_001927.4:c.367A>G MANE Select NP_001918.3:p.Ile123Val
NM_001382708.1:c.367A>G NP_001369637.1:p.Ile123Val
NM_001382709.1:c.367A>G NP_001369638.1:p.Ile123Val
NM_001382710.1:c.367A>G NP_001369639.1:p.Ile123Val
NM_001382711.1:c.367A>G NP_001369640.1:p.Ile123Val
NM_001382712.1:c.367A>G NP_001369641.1:p.Ile123Val
NM_001382713.1:c.367A>G NP_001369642.1:p.Ile123Val
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