Canonical Allele Identifier: CA1963437

Gene: GORASP2

Linked Data

• dbSNP Id: rs4668356
• ExAC: 2:171822466 C / T
• gnomAD v2: 2-171822466-C-T
• gnomAD v3: 2-170965956-C-T
• gnomAD v4: 2-170965956-C-T
• MyVariant Identifiers: chr2:g.171822466C>T (hg19) ; chr2:g.170965956C>T (hg38)

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=