Canonical Allele Identifier: CA350694112

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286127C>G (hg19) ; chr2:g.219421405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421405C>G , CM000664.2:g.219421405C>G	GRCh38
NC_000002.11:g.220286127C>G , CM000664.1:g.220286127C>G	GRCh37
NC_000002.10:g.219994371C>G	NCBI36
NG_008043.1:g.8029C>G , LRG_380:g.8029C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.563C>G
ENST00000683013.1:n.477C>G
ENST00000373960.4:c.1089C>G MANE Select	ENSP00000363071.3:p.Tyr363Ter
ENST00000373960.3:c.1089C>G	ENSP00000363071.3:p.Tyr363Ter
ENST00000477226.5:n.561C>G
ENST00000492726.1:n.484C>G
NM_001927.3:c.1089C>G , LRG_380t1:c.1089C>G	NP_001918.3:p.Tyr363Ter
NM_001927.4:c.1089C>G MANE Select	NP_001918.3:p.Tyr363Ter
NM_001382708.1:c.1086C>G	NP_001369637.1:p.Tyr362Ter
NM_001382709.1:c.736-79C>G	NP_001369638.1:n.736-79C>G
NM_001382710.1:c.1024-4C>G	NP_001369639.1:n.1024-4C>G
NM_001382711.1:c.1068C>G	NP_001369640.1:p.Tyr356Ter
NM_001382712.1:c.1089C>G	NP_001369641.1:p.Tyr363Ter
NM_001382713.1:c.819C>G	NP_001369642.1:p.Tyr273Ter