Canonical Allele Identifier: CA2125204
Gene: DES HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219420939G>A
GRCh37 chr2:g.220285661G>A
Revel Score:
ENST00000373960 (MANE Select) 0.632
gnomAD v2:
2:220285661 G / A
gnomAD v3:
2:219420939 G / A
gnomAD v4:
chr2-219420939-G-A
Joint Max Group AF 0.00024637 (SAS)
Genomes Max Group AF 0.0000325 (AFR)
Exomes Max Group AF 0.00025997 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420939G>A , CM000664.2:g.219420939G>A GRCh38
NC_000002.11:g.220285661G>A , CM000664.1:g.220285661G>A GRCh37
NC_000002.10:g.219993905G>A NCBI36
NG_008043.1:g.7563G>A , LRG_380:g.7563G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.483G>A
ENST00000683013.1:n.397G>A
ENST00000373960.4:c.1009G>A MANE Select ENSP00000363071.3:p.Ala337Thr
ENST00000373960.3:c.1009G>A ENSP00000363071.3:p.Ala337Thr
ENST00000477226.5:n.481G>A
ENST00000492726.1:n.404G>A
NM_001927.3:c.1009G>A , LRG_380t1:c.1009G>A NP_001918.3:p.Ala337Thr
NM_001927.4:c.1009G>A MANE Select NP_001918.3:p.Ala337Thr
NM_001382708.1:c.1006G>A NP_001369637.1:p.Ala336Thr
NM_001382709.1:c.736-545G>A NP_001369638.1:n.736-545G>A
NM_001382710.1:c.1009G>A NP_001369639.1:p.Ala337Thr
NM_001382711.1:c.1009G>A NP_001369640.1:p.Ala337Thr
NM_001382712.1:c.1009G>A NP_001369641.1:p.Ala337Thr
NM_001382713.1:c.739G>A NP_001369642.1:p.Ala247Thr
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