Canonical Allele Identifier: CA346670850

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104750C>A (hg19) ; chr2:g.43877611C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877611C>A , CM000664.2:g.43877611C>A	GRCh38
NC_000002.11:g.44104750C>A , CM000664.1:g.44104750C>A	GRCh37
NC_000002.10:g.43958254C>A	NCBI36
NG_008884.1:g.43648C>A
NG_008884.2:g.50670C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1807C>A MANE Select	ENSP00000272286.2:p.Leu603Met
ENST00000272286.2:c.1807C>A	ENSP00000272286.2:p.Leu603Met
NM_022437.2:c.1807C>A	NP_071882.1:p.Leu603Met
XM_005264483.2:c.1804C>A	XP_005264540.1:p.Leu602Met
XM_011533029.1:c.1819C>A	XP_011531331.1:p.Leu607Met
XM_011533030.1:c.1816C>A	XP_011531332.1:p.Leu606Met
XM_011533031.1:c.1591C>A	XP_011531333.1:p.Leu531Met
XR_939707.1:n.2309C>A
NM_001357321.1:c.1804C>A	NP_001344250.1:p.Leu602Met
XM_011533029.2:c.1819C>A	XP_011531331.1:p.Leu607Met
XM_011533030.2:c.1816C>A	XP_011531332.1:p.Leu606Met
XR_001738891.1:n.2323C>A
XR_939707.2:n.2323C>A
NM_022437.3:c.1807C>A MANE Select	NP_071882.1:p.Leu603Met
NM_001357321.2:c.1804C>A	NP_001344250.1:p.Leu602Met