Canonical Allele Identifier: CA431427782

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220285351T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420629T>G , CM000664.2:g.219420629T>G	GRCh38
NC_000002.11:g.220285351T>G , CM000664.1:g.220285351T>G	GRCh37
NC_000002.10:g.219993595T>G	NCBI36
NG_008043.1:g.7253T>G , LRG_380:g.7253T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.344T>G
ENST00000683013.1:n.258T>G
ENST00000373960.4:c.870T>G MANE Select	ENSP00000363071.3:p.Ser290=
ENST00000373960.3:c.870T>G	ENSP00000363071.3:p.Ser290=
ENST00000477226.5:n.342T>G
ENST00000492726.1:n.265T>G
NM_001927.3:c.870T>G , LRG_380t1:c.870T>G	NP_001918.3:p.Ser290=
NM_001927.4:c.870T>G MANE Select	NP_001918.3:p.Ser290=
NM_001382708.1:c.867T>G	NP_001369637.1:p.Ser289=
NM_001382709.1:c.735+283T>G	NP_001369638.1:n.735+283T>G
NM_001382710.1:c.870T>G	NP_001369639.1:p.Ser290=
NM_001382711.1:c.870T>G	NP_001369640.1:p.Ser290=
NM_001382712.1:c.870T>G	NP_001369641.1:p.Ser290=
NM_001382713.1:c.600T>G	NP_001369642.1:p.Ser200=