Canonical Allele Identifier: CA357313604
Community Standard Title: NM_005506.4(SCARB2):c.1240-2A>G
Gene: SCARB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76163385T>C , CM000666.2:g.76163385T>C GRCh38
NC_000004.11:g.77084538T>C , CM000666.1:g.77084538T>C GRCh37
NC_000004.10:g.77303562T>C NCBI36
NG_012054.1:g.55498A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005506.4:c.1240-2A>G MANE Select NP_005497.1:n.1240-2A>G
ENST00000264896.8:c.1240-2A>G MANE Select ENSP00000264896.2:n.1240-2A>G
NM_001204255.1:c.811-2A>G NP_001191184.1:n.811-2A>G
NM_001204255.2:c.811-2A>G NP_001191184.1:n.811-2A>G
NM_005506.3:c.1240-2A>G NP_005497.1:n.1240-2A>G
ENST00000264896.6:c.1240-2A>G ENSP00000264896.2:n.1240-2A>G
ENST00000452464.6:c.811-2A>G ENSP00000399154.2:n.811-2A>G
ENST00000511129.1:n.616-2A>G
ENST00000511129.2:n.616-2A>G
ENST00000638295.1:c.766-2A>G ENSP00000492288.1:n.766-2A>G
ENST00000638372.1:n.4356A>G
ENST00000638603.1:c.1120-2A>G ENSP00000491728.1:n.1120-2A>G
ENST00000638663.1:c.*22-2A>G ENSP00000491407.1:n.*22-2A>G
ENST00000638680.1:n.2821-2A>G
ENST00000639145.1:c.1231-2A>G ENSP00000492831.1:n.1231-2A>G
ENST00000639300.1:c.*527-2A>G ENSP00000492840.1:n.*527-2A>G
ENST00000639715.1:c.1195-2A>G
ENST00000639738.1:c.328-2A>G ENSP00000491792.1:n.328-2A>G
ENST00000640341.1:c.*880-2A>G ENSP00000492714.1:n.*880-2A>G
ENST00000640634.1:c.1361-2A>G
ENST00000640640.1:c.1240-2A>G ENSP00000492246.1:n.1240-2A>G
ENST00000640880.1:c.53-2A>G
ENST00000640900.1:n.73A>G
ENST00000640957.1:c.1240-2A>G ENSP00000492004.1:n.1240-2A>G
ENST00000682785.1:n.1216-2A>G