Canonical Allele Identifier: CA16622111
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 1405121
ClinVar RCV Id: RCV001903577 RCV003146333
dbSNP Id: rs756390565
gnomAD v2: 2-220283227-C-A
gnomAD v3: 2-219418505-C-A
gnomAD v4: 2-219418505-C-A
MyVariant Identifiers: chr2:g.220283227C>A (hg19) chr2:g.219418505C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418505C>A , CM000664.2:g.219418505C>A GRCh38
NC_000002.11:g.220283227C>A , CM000664.1:g.220283227C>A GRCh37
NC_000002.10:g.219991471C>A NCBI36
NG_008043.1:g.5129C>A , LRG_380:g.5129C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.43C>A MANE Select ENSP00000363071.3:p.Arg15Ser
ENST00000373960.3:c.43C>A ENSP00000363071.3:p.Arg15Ser
NM_001927.3:c.43C>A , LRG_380t1:c.43C>A NP_001918.3:p.Arg15Ser
NM_001927.4:c.43C>A MANE Select NP_001918.3:p.Arg15Ser
NM_001382708.1:c.43C>A NP_001369637.1:p.Arg15Ser
NM_001382709.1:c.43C>A NP_001369638.1:p.Arg15Ser
NM_001382710.1:c.43C>A NP_001369639.1:p.Arg15Ser
NM_001382711.1:c.43C>A NP_001369640.1:p.Arg15Ser
NM_001382712.1:c.43C>A NP_001369641.1:p.Arg15Ser
NM_001382713.1:c.43C>A NP_001369642.1:p.Arg15Ser
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