Canonical Allele Identifier: CA350694769

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286210T>A (hg19) ; chr2:g.219421488T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421488T>A , CM000664.2:g.219421488T>A	GRCh38
NC_000002.11:g.220286210T>A , CM000664.1:g.220286210T>A	GRCh37
NC_000002.10:g.219994454T>A	NCBI36
NG_008043.1:g.8112T>A , LRG_380:g.8112T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.646T>A
ENST00000683013.1:n.560T>A
ENST00000373960.4:c.1172T>A MANE Select	ENSP00000363071.3:p.Leu391Gln
ENST00000373960.3:c.1172T>A	ENSP00000363071.3:p.Leu391Gln
ENST00000477226.5:n.644T>A
ENST00000492726.1:n.567T>A
NM_001927.3:c.1172T>A , LRG_380t1:c.1172T>A	NP_001918.3:p.Leu391Gln
NM_001927.4:c.1172T>A MANE Select	NP_001918.3:p.Leu391Gln
NM_001382708.1:c.1169T>A	NP_001369637.1:p.Leu390Gln
NM_001382709.1:c.740T>A	NP_001369638.1:p.Leu247Gln
NM_001382710.1:c.1103T>A	NP_001369639.1:p.Leu368Gln
NM_001382711.1:c.1151T>A	NP_001369640.1:p.Leu384Gln
NM_001382712.1:c.1172T>A	NP_001369641.1:p.Leu391Gln
NM_001382713.1:c.902T>A	NP_001369642.1:p.Leu301Gln