Canonical Allele Identifier: CA431284468

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286214C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421492C>A , CM000664.2:g.219421492C>A	GRCh38
NC_000002.11:g.220286214C>A , CM000664.1:g.220286214C>A	GRCh37
NC_000002.10:g.219994458C>A	NCBI36
NG_008043.1:g.8116C>A , LRG_380:g.8116C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.650C>A
ENST00000683013.1:n.564C>A
ENST00000373960.4:c.1176C>A MANE Select	ENSP00000363071.3:p.Leu392=
ENST00000373960.3:c.1176C>A	ENSP00000363071.3:p.Leu392=
ENST00000477226.5:n.648C>A
ENST00000492726.1:n.571C>A
NM_001927.3:c.1176C>A , LRG_380t1:c.1176C>A	NP_001918.3:p.Leu392=
NM_001927.4:c.1176C>A MANE Select	NP_001918.3:p.Leu392=
NM_001382708.1:c.1173C>A	NP_001369637.1:p.Leu391=
NM_001382709.1:c.744C>A	NP_001369638.1:p.Leu248=
NM_001382710.1:c.1107C>A	NP_001369639.1:p.Leu369=
NM_001382711.1:c.1155C>A	NP_001369640.1:p.Leu385=
NM_001382712.1:c.1176C>A	NP_001369641.1:p.Leu392=
NM_001382713.1:c.906C>A	NP_001369642.1:p.Leu302=