Canonical Allele Identifier: CA350686919
Gene: DES HGNC NCBI

Linked Data

dbSNP Id: rs1423774114
gnomAD v2: 2-220283716-G-A
gnomAD v4: 2-219418994-G-A
MyVariant Identifiers: chr2:g.220283716G>A (hg19) chr2:g.219418994G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418994G>A , CM000664.2:g.219418994G>A GRCh38
NC_000002.11:g.220283716G>A , CM000664.1:g.220283716G>A GRCh37
NC_000002.10:g.219991960G>A NCBI36
NG_008043.1:g.5618G>A , LRG_380:g.5618G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373960.4:c.532G>A MANE Select ENSP00000363071.3:p.Val178Ile
ENST00000373960.3:c.532G>A ENSP00000363071.3:p.Val178Ile
NM_001927.3:c.532G>A , LRG_380t1:c.532G>A NP_001918.3:p.Val178Ile
NM_001927.4:c.532G>A MANE Select NP_001918.3:p.Val178Ile
NM_001382708.1:c.532G>A NP_001369637.1:p.Val178Ile
NM_001382709.1:c.532G>A NP_001369638.1:p.Val178Ile
NM_001382710.1:c.532G>A NP_001369639.1:p.Val178Ile
NM_001382711.1:c.532G>A NP_001369640.1:p.Val178Ile
NM_001382712.1:c.532G>A NP_001369641.1:p.Val178Ile
NM_001382713.1:c.495+37G>A NP_001369642.1:n.495+37G>A
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