Canonical Allele Identifier: CA346670651

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102511T>A (hg19) ; chr2:g.43875372T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875372T>A , CM000664.2:g.43875372T>A	GRCh38
NC_000002.11:g.44102511T>A , CM000664.1:g.44102511T>A	GRCh37
NC_000002.10:g.43956015T>A	NCBI36
NG_008884.1:g.41409T>A
NG_008884.2:g.48431T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1715T>A MANE Select	ENSP00000272286.2:p.Leu572His
ENST00000272286.2:c.1715T>A	ENSP00000272286.2:p.Leu572His
NM_022437.2:c.1715T>A	NP_071882.1:p.Leu572His
XM_005264483.2:c.1712T>A	XP_005264540.1:p.Leu571His
XM_011533029.1:c.1727T>A	XP_011531331.1:p.Leu576His
XM_011533030.1:c.1724T>A	XP_011531332.1:p.Leu575His
XM_011533031.1:c.1499T>A	XP_011531333.1:p.Leu500His
XR_939707.1:n.2217T>A
NM_001357321.1:c.1712T>A	NP_001344250.1:p.Leu571His
XM_011533029.2:c.1727T>A	XP_011531331.1:p.Leu576His
XM_011533030.2:c.1724T>A	XP_011531332.1:p.Leu575His
XR_001738891.1:n.2231T>A
XR_939707.2:n.2231T>A
NM_022437.3:c.1715T>A MANE Select	NP_071882.1:p.Leu572His
NM_001357321.2:c.1712T>A	NP_001344250.1:p.Leu571His