Canonical Allele Identifier: CA425752531

Gene: ABCG8

Linked Data

• COSMIC: COSM477428
• MyVariant Identifiers: chr2:g.44073416A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846277A>G , CM000664.2:g.43846277A>G	GRCh38
NC_000002.11:g.44073416A>G , CM000664.1:g.44073416A>G	GRCh37
NC_000002.10:g.43926920A>G	NCBI36
NG_008884.1:g.12314A>G
NG_008884.2:g.19336A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.288A>G MANE Select	ENSP00000272286.2:p.Arg96=
ENST00000643284.1:n.745A>G
ENST00000644611.1:c.300A>G	ENSP00000495423.1:p.Arg100=
ENST00000272286.2:c.288A>G	ENSP00000272286.2:p.Arg96=
NM_022437.2:c.288A>G	NP_071882.1:p.Arg96=
XM_005264483.2:c.288A>G	XP_005264540.1:p.Arg96=
XM_011533029.1:c.300A>G	XP_011531331.1:p.Arg100=
XM_011533030.1:c.300A>G	XP_011531332.1:p.Arg100=
XM_011533031.1:c.72A>G	XP_011531333.1:p.Arg24=
XR_939707.1:n.790A>G
NM_001357321.1:c.288A>G	NP_001344250.1:p.Arg96=
XM_011533029.2:c.300A>G	XP_011531331.1:p.Arg100=
XM_011533030.2:c.300A>G	XP_011531332.1:p.Arg100=
XR_001738891.1:n.804A>G
XR_939707.2:n.804A>G
NM_022437.3:c.288A>G MANE Select	NP_071882.1:p.Arg96=
NM_001357321.2:c.288A>G	NP_001344250.1:p.Arg96=