Canonical Allele Identifier: CA1963437
Gene: GORASP2 HGNC NCBI

Linked Data

dbSNP Id: rs4668356

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.170965956C>T , CM000664.2:g.170965956C>T GRCh38
NC_000002.11:g.171822466C>T , CM000664.1:g.171822466C>T GRCh37
NC_000002.10:g.171530712C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234160.5:c.1185C>T MANE Select ENSP00000234160.4:p.Ser395=
ENST00000234160.4:c.1185C>T ENSP00000234160.4:p.Ser395=
ENST00000442798.5:c.*1217C>T ENSP00000399889.1:n.*1217C>T
ENST00000486498.1:n.1451C>T
NM_001201428.1:c.981C>T NP_001188357.1:p.Ser327=
NM_015530.4:c.1185C>T NP_056345.3:p.Ser395=
XM_006712408.2:c.981C>T XP_006712471.1:p.Ser327=
NM_015530.5:c.1185C>T MANE Select NP_056345.3:p.Ser395=
NM_001201428.2:c.981C>T NP_001188357.1:p.Ser327=