Canonical Allele Identifier: CA350699135

Gene: DES

Linked Data

• gnomAD v4: 2-219425976-C-T
• MyVariant Identifiers: chr2:g.220290698C>T (hg19) ; chr2:g.219425976C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425976C>T , CM000664.2:g.219425976C>T	GRCh38
NC_000002.11:g.220290698C>T , CM000664.1:g.220290698C>T	GRCh37
NC_000002.10:g.219998942C>T	NCBI36
NG_008043.1:g.12600C>T , LRG_380:g.12600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.873C>T
ENST00000683013.1:n.787C>T
ENST00000373960.4:c.1399C>T MANE Select	ENSP00000363071.3:p.His467Tyr
ENST00000373960.3:c.1399C>T	ENSP00000363071.3:p.His467Tyr
ENST00000483395.1:n.254C>T
NM_001927.3:c.1399C>T , LRG_380t1:c.1399C>T	NP_001918.3:p.His467Tyr
NM_001927.4:c.1399C>T MANE Select	NP_001918.3:p.His467Tyr
NM_001382708.1:c.1396C>T	NP_001369637.1:p.His466Tyr
NM_001382709.1:c.967C>T	NP_001369638.1:p.His323Tyr
NM_001382710.1:c.1330C>T	NP_001369639.1:p.His444Tyr
NM_001382711.1:c.1378C>T	NP_001369640.1:p.His460Tyr
NM_001382712.1:c.1371+231C>T	NP_001369641.1:n.1371+231C>T
NM_001382713.1:c.1129C>T	NP_001369642.1:p.His377Tyr