Canonical Allele Identifier: CA425908250

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877664-C-G
• MyVariant Identifiers: chr2:g.44104803C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877664C>G , CM000664.2:g.43877664C>G	GRCh38
NC_000002.11:g.44104803C>G , CM000664.1:g.44104803C>G	GRCh37
NC_000002.10:g.43958307C>G	NCBI36
NG_008884.1:g.43701C>G
NG_008884.2:g.50723C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1860C>G MANE Select	ENSP00000272286.2:p.Leu620=
ENST00000272286.2:c.1860C>G	ENSP00000272286.2:p.Leu620=
NM_022437.2:c.1860C>G	NP_071882.1:p.Leu620=
XM_005264483.2:c.1857C>G	XP_005264540.1:p.Leu619=
XM_011533029.1:c.1872C>G	XP_011531331.1:p.Leu624=
XM_011533030.1:c.1869C>G	XP_011531332.1:p.Leu623=
XM_011533031.1:c.1644C>G	XP_011531333.1:p.Leu548=
XR_939707.1:n.2362C>G
NM_001357321.1:c.1857C>G	NP_001344250.1:p.Leu619=
XM_011533029.2:c.1872C>G	XP_011531331.1:p.Leu624=
XM_011533030.2:c.1869C>G	XP_011531332.1:p.Leu623=
XR_001738891.1:n.2376C>G
XR_939707.2:n.2376C>G
NM_022437.3:c.1860C>G MANE Select	NP_071882.1:p.Leu620=
NM_001357321.2:c.1857C>G	NP_001344250.1:p.Leu619=