Canonical Allele Identifier: CA346670485

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102427T>G (hg19) ; chr2:g.43875288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875288T>G , CM000664.2:g.43875288T>G	GRCh38
NC_000002.11:g.44102427T>G , CM000664.1:g.44102427T>G	GRCh37
NC_000002.10:g.43955931T>G	NCBI36
NG_008884.1:g.41325T>G
NG_008884.2:g.48347T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1631T>G MANE Select	ENSP00000272286.2:p.Ile544Ser
ENST00000272286.2:c.1631T>G	ENSP00000272286.2:p.Ile544Ser
NM_022437.2:c.1631T>G	NP_071882.1:p.Ile544Ser
XM_005264483.2:c.1628T>G	XP_005264540.1:p.Ile543Ser
XM_011533029.1:c.1643T>G	XP_011531331.1:p.Ile548Ser
XM_011533030.1:c.1640T>G	XP_011531332.1:p.Ile547Ser
XM_011533031.1:c.1415T>G	XP_011531333.1:p.Ile472Ser
XR_939707.1:n.2133T>G
NM_001357321.1:c.1628T>G	NP_001344250.1:p.Ile543Ser
XM_011533029.2:c.1643T>G	XP_011531331.1:p.Ile548Ser
XM_011533030.2:c.1640T>G	XP_011531332.1:p.Ile547Ser
XR_001738891.1:n.2147T>G
XR_939707.2:n.2147T>G
NM_022437.3:c.1631T>G MANE Select	NP_071882.1:p.Ile544Ser
NM_001357321.2:c.1628T>G	NP_001344250.1:p.Ile543Ser