Canonical Allele Identifier: CA431284478

Gene: DES

Linked Data

• dbSNP Id: rs1575015024
• gnomAD v4: 2-219421508-C-T
• MyVariant Identifiers: chr2:g.220286230C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421508C>T , CM000664.2:g.219421508C>T	GRCh38
NC_000002.11:g.220286230C>T , CM000664.1:g.220286230C>T	GRCh37
NC_000002.10:g.219994474C>T	NCBI36
NG_008043.1:g.8132C>T , LRG_380:g.8132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.666C>T
ENST00000683013.1:n.580C>T
ENST00000373960.4:c.1192C>T MANE Select	ENSP00000363071.3:p.Leu398=
ENST00000373960.3:c.1192C>T	ENSP00000363071.3:p.Leu398=
ENST00000477226.5:n.664C>T
ENST00000492726.1:n.587C>T
NM_001927.3:c.1192C>T , LRG_380t1:c.1192C>T	NP_001918.3:p.Leu398=
NM_001927.4:c.1192C>T MANE Select	NP_001918.3:p.Leu398=
NM_001382708.1:c.1189C>T	NP_001369637.1:p.Leu397=
NM_001382709.1:c.760C>T	NP_001369638.1:p.Leu254=
NM_001382710.1:c.1123C>T	NP_001369639.1:p.Leu375=
NM_001382711.1:c.1171C>T	NP_001369640.1:p.Leu391=
NM_001382712.1:c.1192C>T	NP_001369641.1:p.Leu398=
NM_001382713.1:c.922C>T	NP_001369642.1:p.Leu308=