Canonical Allele Identifier: CA431284476

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286229C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421507C>G , CM000664.2:g.219421507C>G	GRCh38
NC_000002.11:g.220286229C>G , CM000664.1:g.220286229C>G	GRCh37
NC_000002.10:g.219994473C>G	NCBI36
NG_008043.1:g.8131C>G , LRG_380:g.8131C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.665C>G
ENST00000683013.1:n.579C>G
ENST00000373960.4:c.1191C>G MANE Select	ENSP00000363071.3:p.Ala397=
ENST00000373960.3:c.1191C>G	ENSP00000363071.3:p.Ala397=
ENST00000477226.5:n.663C>G
ENST00000492726.1:n.586C>G
NM_001927.3:c.1191C>G , LRG_380t1:c.1191C>G	NP_001918.3:p.Ala397=
NM_001927.4:c.1191C>G MANE Select	NP_001918.3:p.Ala397=
NM_001382708.1:c.1188C>G	NP_001369637.1:p.Ala396=
NM_001382709.1:c.759C>G	NP_001369638.1:p.Ala253=
NM_001382710.1:c.1122C>G	NP_001369639.1:p.Ala374=
NM_001382711.1:c.1170C>G	NP_001369640.1:p.Ala390=
NM_001382712.1:c.1191C>G	NP_001369641.1:p.Ala397=
NM_001382713.1:c.921C>G	NP_001369642.1:p.Ala307=