Canonical Allele Identifier: CA1636752

Gene: ABCG5 ABCG8

Linked Data

• ClinVar Variation Id: 336055
• ClinVar RCV Id: RCV000362294 ; RCV000523427 ; RCV001865220 ; RCV003137964
• dbSNP Id: rs149599171
• ExAC: 2:44065056 C / T
• gnomAD v2: 2-44065056-C-T
• gnomAD v3: 2-43837917-C-T
• gnomAD v4: 2-43837917-C-T
• MyVariant Identifiers: chr2:g.44065056C>T (hg19) ; chr2:g.43837917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43837917C>T , CM000664.2:g.43837917C>T	GRCh38
NC_000002.11:g.44065056C>T , CM000664.1:g.44065056C>T	GRCh37
NC_000002.10:g.43918560C>T	NCBI36
NG_008883.1:g.5903G>A
NG_008884.1:g.3954C>T
NG_008884.2:g.10976C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405322.8:c.182G>A (ABCG5) MANE Select	ENSP00000384513.2:p.Arg61Gln
ENST00000643284.1:n.520+5256C>T (ABCG8)
ENST00000644611.1:c.75+5256C>T (ABCG8)	ENSP00000495423.1:n.75+5256C>T
ENST00000644754.1:n.836G>A (ABCG5)
ENST00000260645.5:c.182G>A (ABCG5)	ENSP00000260645.1:p.Arg61Gln
ENST00000405322.5:c.-62G>A (ABCG5)	ENSP00000384513.1:n.-62G>A
ENST00000409962.1:c.-62G>A (ABCG5)	ENSP00000386501.1:n.-62G>A
ENST00000486512.5:c.-62G>A (ABCG5)	ENSP00000430935.1:n.-62G>A
NM_022436.2:c.182G>A (ABCG5)	NP_071881.1:p.Arg61Gln
XM_005264480.2:c.182G>A (ABCG5)	XP_005264537.1:p.Arg61Gln
XM_006712073.2:c.182G>A (ABCG5)	XP_006712136.1:p.Arg61Gln
XM_006712074.2:c.182G>A (ABCG5)	XP_006712137.1:p.Arg61Gln
XM_011533024.1:c.182G>A (ABCG5)	XP_011531326.1:p.Arg61Gln
XM_011533025.1:c.-62G>A (ABCG5)	XP_011531327.1:n.-62G>A
XM_011533026.1:c.182G>A (ABCG5)	XP_011531328.1:p.Arg61Gln
XM_011533027.1:c.-96G>A (ABCG5)	XP_011531329.1:n.-96G>A
XM_011533029.1:c.75+5256C>T (ABCG8)	XP_011531331.1:n.75+5256C>T
XM_011533030.1:c.75+5256C>T (ABCG8)	XP_011531332.1:n.75+5256C>T
XM_011533031.1:c.-153-6590C>T (ABCG8)	XP_011531333.1:n.-153-6590C>T
XR_939707.1:n.565+5256C>T (ABCG8)
XM_005264480.4:c.182G>A (ABCG5)	XP_005264537.1:p.Arg61Gln
XM_006712073.3:c.182G>A (ABCG5)	XP_006712136.1:p.Arg61Gln
XM_006712074.3:c.182G>A (ABCG5)	XP_006712137.1:p.Arg61Gln
XM_011533024.2:c.182G>A (ABCG5)	XP_011531326.1:p.Arg61Gln
XM_011533025.3:c.-62G>A (ABCG5)	XP_011531327.1:n.-62G>A
XM_011533026.2:c.182G>A (ABCG5)	XP_011531328.1:p.Arg61Gln
XM_011533027.3:c.-96G>A (ABCG5)	XP_011531329.1:n.-96G>A
XM_011533029.2:c.75+5256C>T (ABCG8)	XP_011531331.1:n.75+5256C>T
XM_011533030.2:c.75+5256C>T (ABCG8)	XP_011531332.1:n.75+5256C>T
XR_001738891.1:n.579+5256C>T (ABCG8)
XR_939707.2:n.579+5256C>T (ABCG8)
NM_022436.3:c.182G>A (ABCG5) MANE Select	NP_071881.1:p.Arg61Gln