Canonical Allele Identifier: CA425908217

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877637-A-G
• MyVariant Identifiers: chr2:g.44104776A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877637A>G , CM000664.2:g.43877637A>G	GRCh38
NC_000002.11:g.44104776A>G , CM000664.1:g.44104776A>G	GRCh37
NC_000002.10:g.43958280A>G	NCBI36
NG_008884.1:g.43674A>G
NG_008884.2:g.50696A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1833A>G MANE Select	ENSP00000272286.2:p.Arg611=
ENST00000272286.2:c.1833A>G	ENSP00000272286.2:p.Arg611=
NM_022437.2:c.1833A>G	NP_071882.1:p.Arg611=
XM_005264483.2:c.1830A>G	XP_005264540.1:p.Arg610=
XM_011533029.1:c.1845A>G	XP_011531331.1:p.Arg615=
XM_011533030.1:c.1842A>G	XP_011531332.1:p.Arg614=
XM_011533031.1:c.1617A>G	XP_011531333.1:p.Arg539=
XR_939707.1:n.2335A>G
NM_001357321.1:c.1830A>G	NP_001344250.1:p.Arg610=
XM_011533029.2:c.1845A>G	XP_011531331.1:p.Arg615=
XM_011533030.2:c.1842A>G	XP_011531332.1:p.Arg614=
XR_001738891.1:n.2349A>G
XR_939707.2:n.2349A>G
NM_022437.3:c.1833A>G MANE Select	NP_071882.1:p.Arg611=
NM_001357321.2:c.1830A>G	NP_001344250.1:p.Arg610=