Canonical Allele Identifier: CA346663606

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2085917
• ClinVar RCV Id: RCV003005339
• dbSNP Id: rs1255685258
• gnomAD v2: 2-44073400-T-G
• gnomAD v4: 2-43846261-T-G
• MyVariant Identifiers: chr2:g.44073400T>G (hg19) ; chr2:g.43846261T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846261T>G , CM000664.2:g.43846261T>G	GRCh38
NC_000002.11:g.44073400T>G , CM000664.1:g.44073400T>G	GRCh37
NC_000002.10:g.43926904T>G	NCBI36
NG_008884.1:g.12298T>G
NG_008884.2:g.19320T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.272T>G MANE Select	ENSP00000272286.2:p.Leu91Arg
ENST00000643284.1:n.729T>G
ENST00000644611.1:c.284T>G	ENSP00000495423.1:p.Leu95Arg
ENST00000272286.2:c.272T>G	ENSP00000272286.2:p.Leu91Arg
NM_022437.2:c.272T>G	NP_071882.1:p.Leu91Arg
XM_005264483.2:c.272T>G	XP_005264540.1:p.Leu91Arg
XM_011533029.1:c.284T>G	XP_011531331.1:p.Leu95Arg
XM_011533030.1:c.284T>G	XP_011531332.1:p.Leu95Arg
XM_011533031.1:c.56T>G	XP_011531333.1:p.Leu19Arg
XR_939707.1:n.774T>G
NM_001357321.1:c.272T>G	NP_001344250.1:p.Leu91Arg
XM_011533029.2:c.284T>G	XP_011531331.1:p.Leu95Arg
XM_011533030.2:c.284T>G	XP_011531332.1:p.Leu95Arg
XR_001738891.1:n.788T>G
XR_939707.2:n.788T>G
NM_022437.3:c.272T>G MANE Select	NP_071882.1:p.Leu91Arg
NM_001357321.2:c.272T>G	NP_001344250.1:p.Leu91Arg