Canonical Allele Identifier: CA10186403

Gene: OSBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30906246T>C , CM000684.2:g.30906246T>C	GRCh38
NC_000022.10:g.31302233T>C , CM000684.1:g.31302233T>C	GRCh37
NC_000022.9:g.29632233T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431368.6:c.1293T>C	ENSP00000415274.2:p.Asp431=
ENST00000713559.1:c.1533T>C	ENSP00000518852.1:p.Asp511=
ENST00000332585.11:c.2658T>C MANE Select	ENSP00000332576.6:p.Asp886=
ENST00000332585.10:c.2658T>C	ENSP00000332576.6:p.Asp886=
ENST00000401475.5:c.1557T>C	ENSP00000385254.1:p.Asp519=
ENST00000403222.7:c.1818T>C	ENSP00000384213.4:p.Asp606=
ENST00000407373.5:c.2139T>C	ENSP00000385237.1:p.Asp713=
ENST00000431368.5:c.1673T>C
ENST00000437268.6:c.1887T>C	ENSP00000389200.2:p.Asp629=
ENST00000438716.3:c.2160T>C	ENSP00000411052.2:p.Asp720=
ENST00000446658.6:c.2655T>C	ENSP00000392080.2:p.Asp885=
ENST00000452656.5:c.1366T>C	ENSP00000409838.1:n.1366T>C
ENST00000535268.5:c.1290T>C	ENSP00000438713.1:p.Asp430=
NM_001282738.1:c.2160T>C	NP_001269667.1:p.Asp720=
NM_001282739.1:c.2655T>C	NP_001269668.1:p.Asp885=
NM_001282740.1:c.1557T>C	NP_001269669.1:p.Asp519=
NM_001282741.1:c.1887T>C	NP_001269670.1:p.Asp629=
NM_001282742.1:c.1290T>C	NP_001269671.1:p.Asp430=
NM_030758.3:c.2658T>C	NP_110385.1:p.Asp886=
XM_005261465.3:c.*13T>C	XP_005261522.1:n.*13T>C
XM_006724203.2:c.2508T>C	XP_006724266.2:p.Asp836=
XM_006724207.2:c.1560T>C	XP_006724270.1:p.Asp520=
XM_006724208.2:c.1293T>C	XP_006724271.1:p.Asp431=
XM_011530057.1:c.2628T>C	XP_011528359.1:p.Asp876=
XM_011530058.1:c.2625T>C	XP_011528360.1:p.Asp875=
XM_011530059.1:c.*13T>C	XP_011528361.1:n.*13T>C
XM_011530060.1:c.1884T>C	XP_011528362.1:p.Asp628=
XM_011530061.1:c.1263T>C	XP_011528363.1:p.Asp421=
XM_011530062.1:c.1560T>C	XP_011528364.1:p.Asp520=
XR_938159.1:n.770+5052A>G
NR_146603.1:n.326+5052A>G
NM_030758.4:c.2658T>C MANE Select	NP_110385.1:p.Asp886=
NM_001282739.2:c.2655T>C	NP_001269668.1:p.Asp885=
NM_001282740.2:c.1557T>C	NP_001269669.1:p.Asp519=
NM_001282738.2:c.2160T>C	NP_001269667.1:p.Asp720=
NM_001282741.2:c.1887T>C	NP_001269670.1:p.Asp629=
NM_001282742.2:c.1290T>C	NP_001269671.1:p.Asp430=