Canonical Allele Identifier: CA350698565

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290428G>T (hg19) ; chr2:g.219425706G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425706G>T , CM000664.2:g.219425706G>T	GRCh38
NC_000002.11:g.220290428G>T , CM000664.1:g.220290428G>T	GRCh37
NC_000002.10:g.219998672G>T	NCBI36
NG_008043.1:g.12330G>T , LRG_380:g.12330G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.806G>T
ENST00000683013.1:n.720G>T
ENST00000373960.4:c.1332G>T MANE Select	ENSP00000363071.3:p.Lys444Asn
ENST00000373960.3:c.1332G>T	ENSP00000363071.3:p.Lys444Asn
ENST00000483395.1:n.187G>T
NM_001927.3:c.1332G>T , LRG_380t1:c.1332G>T	NP_001918.3:p.Lys444Asn
NM_001927.4:c.1332G>T MANE Select	NP_001918.3:p.Lys444Asn
NM_001382708.1:c.1329G>T	NP_001369637.1:p.Lys443Asn
NM_001382709.1:c.900G>T	NP_001369638.1:p.Lys300Asn
NM_001382710.1:c.1263G>T	NP_001369639.1:p.Lys421Asn
NM_001382711.1:c.1311G>T	NP_001369640.1:p.Lys437Asn
NM_001382712.1:c.1332G>T	NP_001369641.1:p.Lys444Asn
NM_001382713.1:c.1062G>T	NP_001369642.1:p.Lys354Asn