Canonical Allele Identifier: CA350694804

Gene: DES

Linked Data

• gnomAD v4: 2-219421493-A-G
• MyVariant Identifiers: chr2:g.220286215A>G (hg19) ; chr2:g.219421493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421493A>G , CM000664.2:g.219421493A>G	GRCh38
NC_000002.11:g.220286215A>G , CM000664.1:g.220286215A>G	GRCh37
NC_000002.10:g.219994459A>G	NCBI36
NG_008043.1:g.8117A>G , LRG_380:g.8117A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.651A>G
ENST00000683013.1:n.565A>G
ENST00000373960.4:c.1177A>G MANE Select	ENSP00000363071.3:p.Asn393Asp
ENST00000373960.3:c.1177A>G	ENSP00000363071.3:p.Asn393Asp
ENST00000477226.5:n.649A>G
ENST00000492726.1:n.572A>G
NM_001927.3:c.1177A>G , LRG_380t1:c.1177A>G	NP_001918.3:p.Asn393Asp
NM_001927.4:c.1177A>G MANE Select	NP_001918.3:p.Asn393Asp
NM_001382708.1:c.1174A>G	NP_001369637.1:p.Asn392Asp
NM_001382709.1:c.745A>G	NP_001369638.1:p.Asn249Asp
NM_001382710.1:c.1108A>G	NP_001369639.1:p.Asn370Asp
NM_001382711.1:c.1156A>G	NP_001369640.1:p.Asn386Asp
NM_001382712.1:c.1177A>G	NP_001369641.1:p.Asn393Asp
NM_001382713.1:c.907A>G	NP_001369642.1:p.Asn303Asp