Canonical Allele Identifier: CA133883
Gene: DES HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219420864G>A
GRCh37 chr2:g.220285586G>A
Revel Score:
ENST00000373960 (MANE Select) 0.521
gnomAD v2:
2:220285586 G / A
gnomAD v3:
2:219420864 G / A
gnomAD v4:
chr2-219420864-G-A
Joint Max Group AF 0.00149186 (AFR)
Genomes Max Group AF 0.00134845 (AFR)
Exomes Max Group AF 0.00145567 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420864G>A , CM000664.2:g.219420864G>A GRCh38
NC_000002.11:g.220285586G>A , CM000664.1:g.220285586G>A GRCh37
NC_000002.10:g.219993830G>A NCBI36
NG_008043.1:g.7488G>A , LRG_380:g.7488G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.408G>A
ENST00000683013.1:n.322G>A
ENST00000373960.4:c.934G>A MANE Select ENSP00000363071.3:p.Asp312Asn
ENST00000373960.3:c.934G>A ENSP00000363071.3:p.Asp312Asn
ENST00000477226.5:n.406G>A
ENST00000492726.1:n.329G>A
NM_001927.3:c.934G>A , LRG_380t1:c.934G>A NP_001918.3:p.Asp312Asn
NM_001927.4:c.934G>A MANE Select NP_001918.3:p.Asp312Asn
NM_001382708.1:c.931G>A NP_001369637.1:p.Asp311Asn
NM_001382709.1:c.735+518G>A NP_001369638.1:n.735+518G>A
NM_001382710.1:c.934G>A NP_001369639.1:p.Asp312Asn
NM_001382711.1:c.934G>A NP_001369640.1:p.Asp312Asn
NM_001382712.1:c.934G>A NP_001369641.1:p.Asp312Asn
NM_001382713.1:c.664G>A NP_001369642.1:p.Asp222Asn
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