Canonical Allele Identifier: CA350698308

Gene: DES

Linked Data

• gnomAD v4: 2-219425669-G-T
• MyVariant Identifiers: chr2:g.220290391G>T (hg19) ; chr2:g.219425669G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425669G>T , CM000664.2:g.219425669G>T	GRCh38
NC_000002.11:g.220290391G>T , CM000664.1:g.220290391G>T	GRCh37
NC_000002.10:g.219998635G>T	NCBI36
NG_008043.1:g.12293G>T , LRG_380:g.12293G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.769G>T
ENST00000683013.1:n.683G>T
ENST00000373960.4:c.1295G>T MANE Select	ENSP00000363071.3:p.Ser432Ile
ENST00000373960.3:c.1295G>T	ENSP00000363071.3:p.Ser432Ile
ENST00000483395.1:n.150G>T
NM_001927.3:c.1295G>T , LRG_380t1:c.1295G>T	NP_001918.3:p.Ser432Ile
NM_001927.4:c.1295G>T MANE Select	NP_001918.3:p.Ser432Ile
NM_001382708.1:c.1292G>T	NP_001369637.1:p.Ser431Ile
NM_001382709.1:c.863G>T	NP_001369638.1:p.Ser288Ile
NM_001382710.1:c.1226G>T	NP_001369639.1:p.Ser409Ile
NM_001382711.1:c.1274G>T	NP_001369640.1:p.Ser425Ile
NM_001382712.1:c.1295G>T	NP_001369641.1:p.Ser432Ile
NM_001382713.1:c.1025G>T	NP_001369642.1:p.Ser342Ile