Canonical Allele Identifier: CA350695098

Gene: DES

Linked Data

• ClinVar Variation Id: 2090670
• ClinVar RCV Id: RCV002991421
• MyVariant Identifiers: chr2:g.220286274G>T (hg19) ; chr2:g.219421552G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421552G>T , CM000664.2:g.219421552G>T	GRCh38
NC_000002.11:g.220286274G>T , CM000664.1:g.220286274G>T	GRCh37
NC_000002.10:g.219994518G>T	NCBI36
NG_008043.1:g.8176G>T , LRG_380:g.8176G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.710G>T
ENST00000683013.1:n.624G>T
ENST00000373960.4:c.1236G>T MANE Select	ENSP00000363071.3:p.Glu412Asp
ENST00000373960.3:c.1236G>T	ENSP00000363071.3:p.Glu412Asp
ENST00000477226.5:n.708G>T
ENST00000492726.1:n.631G>T
NM_001927.3:c.1236G>T , LRG_380t1:c.1236G>T	NP_001918.3:p.Glu412Asp
NM_001927.4:c.1236G>T MANE Select	NP_001918.3:p.Glu412Asp
NM_001382708.1:c.1233G>T	NP_001369637.1:p.Glu411Asp
NM_001382709.1:c.804G>T	NP_001369638.1:p.Glu268Asp
NM_001382710.1:c.1167G>T	NP_001369639.1:p.Glu389Asp
NM_001382711.1:c.1215G>T	NP_001369640.1:p.Glu405Asp
NM_001382712.1:c.1236G>T	NP_001369641.1:p.Glu412Asp
NM_001382713.1:c.966G>T	NP_001369642.1:p.Glu322Asp