Canonical Allele Identifier: CA65983651

Gene: DES

Linked Data

• ClinVar Variation Id: 541306
• ClinVar RCV Id: RCV000651551 ; RCV004025837
• dbSNP Id: rs955390251
• gnomAD v2: 2-220286217-C-T
• gnomAD v4: 2-219421495-C-T
• MyVariant Identifiers: chr2:g.220286217C>T (hg19) ; chr2:g.219421495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421495C>T , CM000664.2:g.219421495C>T	GRCh38
NC_000002.11:g.220286217C>T , CM000664.1:g.220286217C>T	GRCh37
NC_000002.10:g.219994461C>T	NCBI36
NG_008043.1:g.8119C>T , LRG_380:g.8119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.653C>T
ENST00000683013.1:n.567C>T
ENST00000373960.4:c.1179C>T MANE Select	ENSP00000363071.3:p.Asn393=
ENST00000373960.3:c.1179C>T	ENSP00000363071.3:p.Asn393=
ENST00000477226.5:n.651C>T
ENST00000492726.1:n.574C>T
NM_001927.3:c.1179C>T , LRG_380t1:c.1179C>T	NP_001918.3:p.Asn393=
NM_001927.4:c.1179C>T MANE Select	NP_001918.3:p.Asn393=
NM_001382708.1:c.1176C>T	NP_001369637.1:p.Asn392=
NM_001382709.1:c.747C>T	NP_001369638.1:p.Asn249=
NM_001382710.1:c.1110C>T	NP_001369639.1:p.Asn370=
NM_001382711.1:c.1158C>T	NP_001369640.1:p.Asn386=
NM_001382712.1:c.1179C>T	NP_001369641.1:p.Asn393=
NM_001382713.1:c.909C>T	NP_001369642.1:p.Asn303=