Canonical Allele Identifier: CA2970125

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76163350G>A , CM000666.2:g.76163350G>A	GRCh38
NC_000004.11:g.77084503G>A , CM000666.1:g.77084503G>A	GRCh37
NC_000004.10:g.77303527G>A	NCBI36
NG_012054.1:g.55533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.1249C>T
ENST00000264896.8:c.1273C>T MANE Select	ENSP00000264896.2:p.Leu425=
ENST00000511129.2:n.649C>T
ENST00000638295.1:c.799C>T	ENSP00000492288.1:p.Leu267=
ENST00000638372.1:n.4391C>T
ENST00000638603.1:c.1153C>T	ENSP00000491728.1:p.Leu385=
ENST00000638663.1:c.*55C>T	ENSP00000491407.1:n.*55C>T
ENST00000638680.1:n.2854C>T
ENST00000639145.1:c.1264C>T	ENSP00000492831.1:p.Leu422=
ENST00000639300.1:c.*560C>T	ENSP00000492840.1:n.*560C>T
ENST00000639715.1:c.1228C>T
ENST00000639738.1:c.361C>T	ENSP00000491792.1:p.Leu121=
ENST00000640341.1:c.*913C>T	ENSP00000492714.1:n.*913C>T
ENST00000640634.1:c.1394C>T
ENST00000640640.1:c.1273C>T	ENSP00000492246.1:p.Leu425=
ENST00000640880.1:c.86C>T
ENST00000640900.1:n.108C>T
ENST00000640957.1:c.1273C>T	ENSP00000492004.1:p.Leu425=
ENST00000264896.6:c.1273C>T	ENSP00000264896.2:p.Leu425=
ENST00000452464.6:c.844C>T	ENSP00000399154.2:p.Leu282=
ENST00000511129.1:n.649C>T
NM_001204255.1:c.844C>T	NP_001191184.1:p.Leu282=
NM_005506.3:c.1273C>T	NP_005497.1:p.Leu425=
NM_005506.4:c.1273C>T MANE Select	NP_005497.1:p.Leu425=
NM_001204255.2:c.844C>T	NP_001191184.1:p.Leu282=