Canonical Allele Identifier: CA2970301

Gene: SCARB2

Linked Data

• dbSNP Id: rs570067495
• ExAC: 4:77100634 TAA / T
• gnomAD v2: 4-77100634-TAA-T
• gnomAD v3: 4-76179481-TAA-T
• gnomAD v4: 4-76179481-TAA-T
• MyVariant Identifiers: chr4:g.77100635_77100636del (hg19) ; chr4:g.76179483_76179484del (hg38) ; chr4:g.76179482_76179483del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179487_76179488del , CM000666.2:g.76179487_76179488del	GRCh38
NC_000004.11:g.77100640_77100641del , CM000666.1:g.77100640_77100641del	GRCh37
NC_000004.10:g.77319664_77319665del	NCBI36
NG_012054.1:g.39400_39401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.588+34_588+35del
ENST00000264896.8:c.612+34_612+35del MANE Select	ENSP00000264896.2:n.612+34_612+35del
ENST00000502908.2:n.2147_2148del
ENST00000638295.1:c.138+34_138+35del	ENSP00000492288.1:n.138+34_138+35del
ENST00000638372.1:n.864+34_864+35del
ENST00000638603.1:c.612+34_612+35del	ENSP00000491728.1:n.612+34_612+35del
ENST00000638663.1:c.612+34_612+35del	ENSP00000491407.1:n.612+34_612+35del
ENST00000638680.1:n.2193+34_2193+35del
ENST00000639145.1:c.603+34_603+35del	ENSP00000492831.1:n.603+34_603+35del
ENST00000639300.1:c.612+34_612+35del	ENSP00000492840.1:n.612+34_612+35del
ENST00000639324.1:n.711+34_711+35del
ENST00000639715.1:c.567+34_567+35del
ENST00000639738.1:c.276-13182_276-13181del	ENSP00000491792.1:n.276-13182_276-13181del
ENST00000640076.1:n.193+34_193+35del
ENST00000640341.1:c.*252+34_*252+35del	ENSP00000492714.1:n.*252+34_*252+35del
ENST00000640634.1:c.733+34_733+35del
ENST00000640640.1:c.612+34_612+35del	ENSP00000492246.1:n.612+34_612+35del
ENST00000640916.1:n.574_575del
ENST00000640957.1:c.612+34_612+35del	ENSP00000492004.1:n.612+34_612+35del
ENST00000264896.6:c.612+34_612+35del	ENSP00000264896.2:n.612+34_612+35del
ENST00000452464.6:c.276-3573_276-3572del	ENSP00000399154.2:n.276-3573_276-3572del
NM_001204255.1:c.276-3573_276-3572del	NP_001191184.1:n.276-3573_276-3572del
NM_005506.3:c.612+34_612+35del	NP_005497.1:n.612+34_612+35del
NM_005506.4:c.612+34_612+35del MANE Select	NP_005497.1:n.612+34_612+35del
NM_001204255.2:c.276-3573_276-3572del	NP_001191184.1:n.276-3573_276-3572del