Canonical Allele Identifier: CA350691439

Gene: DES

Linked Data

• ClinVar Variation Id: 2691161
• ClinVar RCV Id: RCV003487210
• MyVariant Identifiers: chr2:g.220285322T>A (hg19) ; chr2:g.219420600T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420600T>A , CM000664.2:g.219420600T>A	GRCh38
NC_000002.11:g.220285322T>A , CM000664.1:g.220285322T>A	GRCh37
NC_000002.10:g.219993566T>A	NCBI36
NG_008043.1:g.7224T>A , LRG_380:g.7224T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.315T>A
ENST00000683013.1:n.229T>A
ENST00000373960.4:c.841T>A MANE Select	ENSP00000363071.3:p.Tyr281Asn
ENST00000373960.3:c.841T>A	ENSP00000363071.3:p.Tyr281Asn
ENST00000477226.5:n.313T>A
ENST00000492726.1:n.236T>A
NM_001927.3:c.841T>A , LRG_380t1:c.841T>A	NP_001918.3:p.Tyr281Asn
NM_001927.4:c.841T>A MANE Select	NP_001918.3:p.Tyr281Asn
NM_001382708.1:c.838T>A	NP_001369637.1:p.Tyr280Asn
NM_001382709.1:c.735+254T>A	NP_001369638.1:n.735+254T>A
NM_001382710.1:c.841T>A	NP_001369639.1:p.Tyr281Asn
NM_001382711.1:c.841T>A	NP_001369640.1:p.Tyr281Asn
NM_001382712.1:c.841T>A	NP_001369641.1:p.Tyr281Asn
NM_001382713.1:c.571T>A	NP_001369642.1:p.Tyr191Asn