Canonical Allele Identifier: CA346670589

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102482C>G (hg19) ; chr2:g.43875343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875343C>G , CM000664.2:g.43875343C>G	GRCh38
NC_000002.11:g.44102482C>G , CM000664.1:g.44102482C>G	GRCh37
NC_000002.10:g.43955986C>G	NCBI36
NG_008884.1:g.41380C>G
NG_008884.2:g.48402C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1686C>G MANE Select	ENSP00000272286.2:p.Phe562Leu
ENST00000272286.2:c.1686C>G	ENSP00000272286.2:p.Phe562Leu
NM_022437.2:c.1686C>G	NP_071882.1:p.Phe562Leu
XM_005264483.2:c.1683C>G	XP_005264540.1:p.Phe561Leu
XM_011533029.1:c.1698C>G	XP_011531331.1:p.Phe566Leu
XM_011533030.1:c.1695C>G	XP_011531332.1:p.Phe565Leu
XM_011533031.1:c.1470C>G	XP_011531333.1:p.Phe490Leu
XR_939707.1:n.2188C>G
NM_001357321.1:c.1683C>G	NP_001344250.1:p.Phe561Leu
XM_011533029.2:c.1698C>G	XP_011531331.1:p.Phe566Leu
XM_011533030.2:c.1695C>G	XP_011531332.1:p.Phe565Leu
XR_001738891.1:n.2202C>G
XR_939707.2:n.2202C>G
NM_022437.3:c.1686C>G MANE Select	NP_071882.1:p.Phe562Leu
NM_001357321.2:c.1683C>G	NP_001344250.1:p.Phe561Leu