Canonical Allele Identifier: CA1637730

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 779658
• ClinVar RCV Id: RCV000960559 ; RCV001819027 ; RCV002416232
• dbSNP Id: rs9282573
• ExAC: 2:44104993 A / G
• gnomAD v2: 2-44104993-A-G
• gnomAD v3: 2-43877854-A-G
• gnomAD v4: 2-43877854-A-G
• MyVariant Identifiers: chr2:g.44104993A>G (hg19) ; chr2:g.43877854A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877854A>G , CM000664.2:g.43877854A>G	GRCh38
NC_000002.11:g.44104993A>G , CM000664.1:g.44104993A>G	GRCh37
NC_000002.10:g.43958497A>G	NCBI36
NG_008884.1:g.43891A>G
NG_008884.2:g.50913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1963A>G MANE Select	ENSP00000272286.2:p.Met655Val
ENST00000272286.2:c.1963A>G	ENSP00000272286.2:p.Met655Val
NM_022437.2:c.1963A>G	NP_071882.1:p.Met655Val
XM_005264483.2:c.1960A>G	XP_005264540.1:p.Met654Val
XM_011533029.1:c.1975A>G	XP_011531331.1:p.Met659Val
XM_011533030.1:c.1972A>G	XP_011531332.1:p.Met658Val
XM_011533031.1:c.1747A>G	XP_011531333.1:p.Met583Val
XR_939707.1:n.2465A>G
NM_001357321.1:c.1960A>G	NP_001344250.1:p.Met654Val
XM_011533029.2:c.1975A>G	XP_011531331.1:p.Met659Val
XM_011533030.2:c.1972A>G	XP_011531332.1:p.Met658Val
XR_001738891.1:n.2479A>G
XR_939707.2:n.2479A>G
NM_022437.3:c.1963A>G MANE Select	NP_071882.1:p.Met655Val
NM_001357321.2:c.1960A>G	NP_001344250.1:p.Met654Val