Canonical Allele Identifier: CA350694846

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286219T>G (hg19) ; chr2:g.219421497T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421497T>G , CM000664.2:g.219421497T>G	GRCh38
NC_000002.11:g.220286219T>G , CM000664.1:g.220286219T>G	GRCh37
NC_000002.10:g.219994463T>G	NCBI36
NG_008043.1:g.8121T>G , LRG_380:g.8121T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.655T>G
ENST00000683013.1:n.569T>G
ENST00000373960.4:c.1181T>G MANE Select	ENSP00000363071.3:p.Val394Gly
ENST00000373960.3:c.1181T>G	ENSP00000363071.3:p.Val394Gly
ENST00000477226.5:n.653T>G
ENST00000492726.1:n.576T>G
NM_001927.3:c.1181T>G , LRG_380t1:c.1181T>G	NP_001918.3:p.Val394Gly
NM_001927.4:c.1181T>G MANE Select	NP_001918.3:p.Val394Gly
NM_001382708.1:c.1178T>G	NP_001369637.1:p.Val393Gly
NM_001382709.1:c.749T>G	NP_001369638.1:p.Val250Gly
NM_001382710.1:c.1112T>G	NP_001369639.1:p.Val371Gly
NM_001382711.1:c.1160T>G	NP_001369640.1:p.Val387Gly
NM_001382712.1:c.1181T>G	NP_001369641.1:p.Val394Gly
NM_001382713.1:c.911T>G	NP_001369642.1:p.Val304Gly