Canonical Allele Identifier: CA426116453

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43875373-C-A
• MyVariant Identifiers: chr2:g.44102512C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875373C>A , CM000664.2:g.43875373C>A	GRCh38
NC_000002.11:g.44102512C>A , CM000664.1:g.44102512C>A	GRCh37
NC_000002.10:g.43956016C>A	NCBI36
NG_008884.1:g.41410C>A
NG_008884.2:g.48432C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1716C>A MANE Select	ENSP00000272286.2:p.Leu572=
ENST00000272286.2:c.1716C>A	ENSP00000272286.2:p.Leu572=
NM_022437.2:c.1716C>A	NP_071882.1:p.Leu572=
XM_005264483.2:c.1713C>A	XP_005264540.1:p.Leu571=
XM_011533029.1:c.1728C>A	XP_011531331.1:p.Leu576=
XM_011533030.1:c.1725C>A	XP_011531332.1:p.Leu575=
XM_011533031.1:c.1500C>A	XP_011531333.1:p.Leu500=
XR_939707.1:n.2218C>A
NM_001357321.1:c.1713C>A	NP_001344250.1:p.Leu571=
XM_011533029.2:c.1728C>A	XP_011531331.1:p.Leu576=
XM_011533030.2:c.1725C>A	XP_011531332.1:p.Leu575=
XR_001738891.1:n.2232C>A
XR_939707.2:n.2232C>A
NM_022437.3:c.1716C>A MANE Select	NP_071882.1:p.Leu572=
NM_001357321.2:c.1713C>A	NP_001344250.1:p.Leu571=