Canonical Allele Identifier: CA1469498044
Gene: SCARB2 HGNC NCBI

Linked Data

dbSNP Id: rs1732552198

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76189321_76189322del , CM000666.2:g.76189321_76189322del GRCh38
NC_000004.11:g.77110474_77110475del , CM000666.1:g.77110474_77110475del GRCh37
NC_000004.10:g.77329498_77329499del NCBI36
NG_012054.1:g.29561_29562del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682785.1:n.251+6385_251+6386del
ENST00000264896.8:c.275+6385_275+6386del MANE Select ENSP00000264896.2:n.275+6385_275+6386del
ENST00000502908.2:n.528+6385_528+6386del
ENST00000509994.2:c.276-4542_276-4541del ENSP00000420988.1:n.276-4542_276-4541del
ENST00000638295.1:c.-200+6385_-200+6386del ENSP00000492288.1:n.-200+6385_-200+6386del
ENST00000638372.1:n.527+6385_527+6386del
ENST00000638603.1:c.275+6385_275+6386del ENSP00000491728.1:n.275+6385_275+6386del
ENST00000638663.1:c.275+6385_275+6386del ENSP00000491407.1:n.275+6385_275+6386del
ENST00000638680.1:n.608+6385_608+6386del
ENST00000639145.1:c.275+6385_275+6386del ENSP00000492831.1:n.275+6385_275+6386del
ENST00000639300.1:c.275+6385_275+6386del ENSP00000492840.1:n.275+6385_275+6386del
ENST00000639324.1:n.374+6385_374+6386del
ENST00000639715.1:c.240+6385_240+6386del
ENST00000639738.1:c.275+6385_275+6386del ENSP00000491792.1:n.275+6385_275+6386del
ENST00000640341.1:c.275+6385_275+6386del ENSP00000492714.1:n.275+6385_275+6386del
ENST00000640634.1:c.252+6385_252+6386del
ENST00000640640.1:c.275+6385_275+6386del ENSP00000492246.1:n.275+6385_275+6386del
ENST00000640916.1:n.203+6385_203+6386del
ENST00000640957.1:c.275+6385_275+6386del ENSP00000492004.1:n.275+6385_275+6386del
ENST00000264896.6:c.275+6385_275+6386del ENSP00000264896.2:n.275+6385_275+6386del
ENST00000452464.6:c.275+6385_275+6386del ENSP00000399154.2:n.275+6385_275+6386del
ENST00000502908.1:n.139+6385_139+6386del
ENST00000509994.1:c.276-4542_276-4541del ENSP00000420988.1:n.276-4542_276-4541del
NM_001204255.1:c.275+6385_275+6386del NP_001191184.1:n.275+6385_275+6386del
NM_005506.3:c.275+6385_275+6386del NP_005497.1:n.275+6385_275+6386del
NM_005506.4:c.275+6385_275+6386del MANE Select NP_005497.1:n.275+6385_275+6386del
NM_001204255.2:c.275+6385_275+6386del NP_001191184.1:n.275+6385_275+6386del