Canonical Allele Identifier: CA439953788
Gene: SCARB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.77100721A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76179568A>C , CM000666.2:g.76179568A>C GRCh38
NC_000004.11:g.77100721A>C , CM000666.1:g.77100721A>C GRCh37
NC_000004.10:g.77319745A>C NCBI36
NG_012054.1:g.39315T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682785.1:n.537T>G
ENST00000264896.8:c.561T>G MANE Select ENSP00000264896.2:p.Leu187=
ENST00000502908.2:n.2062T>G
ENST00000638295.1:c.87T>G ENSP00000492288.1:p.Leu29=
ENST00000638372.1:n.813T>G
ENST00000638603.1:c.561T>G ENSP00000491728.1:p.Leu187=
ENST00000638663.1:c.561T>G ENSP00000491407.1:p.Leu187=
ENST00000638680.1:n.2142T>G
ENST00000639145.1:c.552T>G ENSP00000492831.1:p.Leu184=
ENST00000639300.1:c.561T>G ENSP00000492840.1:p.Leu187=
ENST00000639324.1:n.660T>G
ENST00000639715.1:c.516T>G
ENST00000639738.1:c.276-13267T>G ENSP00000491792.1:n.276-13267T>G
ENST00000640076.1:n.142T>G
ENST00000640341.1:c.*201T>G ENSP00000492714.1:n.*201T>G
ENST00000640634.1:c.682T>G
ENST00000640640.1:c.561T>G ENSP00000492246.1:p.Leu187=
ENST00000640916.1:n.489T>G
ENST00000640957.1:c.561T>G ENSP00000492004.1:p.Leu187=
ENST00000264896.6:c.561T>G ENSP00000264896.2:p.Leu187=
ENST00000452464.6:c.276-3658T>G ENSP00000399154.2:n.276-3658T>G
NM_001204255.1:c.276-3658T>G NP_001191184.1:n.276-3658T>G
NM_005506.3:c.561T>G NP_005497.1:p.Leu187=
NM_005506.4:c.561T>G MANE Select NP_005497.1:p.Leu187=
NM_001204255.2:c.276-3658T>G NP_001191184.1:n.276-3658T>G