Canonical Allele Identifier: CA16610670
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 411124
ClinVar RCV Id: RCV001380227
dbSNP Id: rs1060503165
MyVariant Identifiers: chr2:g.220283578C>T (hg19) chr2:g.219418856C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418856C>T , CM000664.2:g.219418856C>T GRCh38
NC_000002.11:g.220283578C>T , CM000664.1:g.220283578C>T GRCh37
NC_000002.10:g.219991822C>T NCBI36
NG_008043.1:g.5480C>T , LRG_380:g.5480C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373960.4:c.394C>T MANE Select ENSP00000363071.3:p.Gln132Ter
ENST00000373960.3:c.394C>T ENSP00000363071.3:p.Gln132Ter
NM_001927.3:c.394C>T , LRG_380t1:c.394C>T NP_001918.3:p.Gln132Ter
NM_001927.4:c.394C>T MANE Select NP_001918.3:p.Gln132Ter
NM_001382708.1:c.394C>T NP_001369637.1:p.Gln132Ter
NM_001382709.1:c.394C>T NP_001369638.1:p.Gln132Ter
NM_001382710.1:c.394C>T NP_001369639.1:p.Gln132Ter
NM_001382711.1:c.394C>T NP_001369640.1:p.Gln132Ter
NM_001382712.1:c.394C>T NP_001369641.1:p.Gln132Ter
NM_001382713.1:c.394C>T NP_001369642.1:p.Gln132Ter
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