Canonical Allele Identifier: CA357326644

Gene: SCARB2

Linked Data

• MyVariant Identifiers: chr4:g.77100672C>A (hg19) ; chr4:g.76179519C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179519C>A , CM000666.2:g.76179519C>A	GRCh38
NC_000004.11:g.77100672C>A , CM000666.1:g.77100672C>A	GRCh37
NC_000004.10:g.77319696C>A	NCBI36
NG_012054.1:g.39364G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.586G>T
ENST00000264896.8:c.610G>T MANE Select	ENSP00000264896.2:p.Glu204Ter
ENST00000502908.2:n.2111G>T
ENST00000638295.1:c.136G>T	ENSP00000492288.1:p.Glu46Ter
ENST00000638372.1:n.862G>T
ENST00000638603.1:c.610G>T	ENSP00000491728.1:p.Glu204Ter
ENST00000638663.1:c.610G>T	ENSP00000491407.1:p.Glu204Ter
ENST00000638680.1:n.2191G>T
ENST00000639145.1:c.601G>T	ENSP00000492831.1:p.Glu201Ter
ENST00000639300.1:c.610G>T	ENSP00000492840.1:p.Glu204Ter
ENST00000639324.1:n.709G>T
ENST00000639715.1:c.565G>T
ENST00000639738.1:c.276-13218G>T	ENSP00000491792.1:n.276-13218G>T
ENST00000640076.1:n.191G>T
ENST00000640341.1:c.*250G>T	ENSP00000492714.1:n.*250G>T
ENST00000640634.1:c.731G>T
ENST00000640640.1:c.610G>T	ENSP00000492246.1:p.Glu204Ter
ENST00000640916.1:n.538G>T
ENST00000640957.1:c.610G>T	ENSP00000492004.1:p.Glu204Ter
ENST00000264896.6:c.610G>T	ENSP00000264896.2:p.Glu204Ter
ENST00000452464.6:c.276-3609G>T	ENSP00000399154.2:n.276-3609G>T
NM_001204255.1:c.276-3609G>T	NP_001191184.1:n.276-3609G>T
NM_005506.3:c.610G>T	NP_005497.1:p.Glu204Ter
NM_005506.4:c.610G>T MANE Select	NP_005497.1:p.Glu204Ter
NM_001204255.2:c.276-3609G>T	NP_001191184.1:n.276-3609G>T