Canonical Allele Identifier: CA350699021

Gene: DES

Linked Data

• dbSNP Id: rs1415077759
• gnomAD v2: 2-220290686-A-G
• gnomAD v4: 2-219425964-A-G
• MyVariant Identifiers: chr2:g.220290686A>G (hg19) ; chr2:g.219425964A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425964A>G , CM000664.2:g.219425964A>G	GRCh38
NC_000002.11:g.220290686A>G , CM000664.1:g.220290686A>G	GRCh37
NC_000002.10:g.219998930A>G	NCBI36
NG_008043.1:g.12588A>G , LRG_380:g.12588A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.861A>G
ENST00000683013.1:n.775A>G
ENST00000373960.4:c.1387A>G MANE Select	ENSP00000363071.3:p.Thr463Ala
ENST00000373960.3:c.1387A>G	ENSP00000363071.3:p.Thr463Ala
ENST00000483395.1:n.242A>G
NM_001927.3:c.1387A>G , LRG_380t1:c.1387A>G	NP_001918.3:p.Thr463Ala
NM_001927.4:c.1387A>G MANE Select	NP_001918.3:p.Thr463Ala
NM_001382708.1:c.1384A>G	NP_001369637.1:p.Thr462Ala
NM_001382709.1:c.955A>G	NP_001369638.1:p.Thr319Ala
NM_001382710.1:c.1318A>G	NP_001369639.1:p.Thr440Ala
NM_001382711.1:c.1366A>G	NP_001369640.1:p.Thr456Ala
NM_001382712.1:c.1371+219A>G	NP_001369641.1:n.1371+219A>G
NM_001382713.1:c.1117A>G	NP_001369642.1:p.Thr373Ala