Canonical Allele Identifier: CA346671242

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2078838
• ClinVar RCV Id: RCV002995036
• dbSNP Id: rs2104952579
• MyVariant Identifiers: chr2:g.44104942T>C (hg19) ; chr2:g.43877803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877803T>C , CM000664.2:g.43877803T>C	GRCh38
NC_000002.11:g.44104942T>C , CM000664.1:g.44104942T>C	GRCh37
NC_000002.10:g.43958446T>C	NCBI36
NG_008884.1:g.43840T>C
NG_008884.2:g.50862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1912T>C MANE Select	ENSP00000272286.2:p.Tyr638His
ENST00000272286.2:c.1912T>C	ENSP00000272286.2:p.Tyr638His
NM_022437.2:c.1912T>C	NP_071882.1:p.Tyr638His
XM_005264483.2:c.1909T>C	XP_005264540.1:p.Tyr637His
XM_011533029.1:c.1924T>C	XP_011531331.1:p.Tyr642His
XM_011533030.1:c.1921T>C	XP_011531332.1:p.Tyr641His
XM_011533031.1:c.1696T>C	XP_011531333.1:p.Tyr566His
XR_939707.1:n.2414T>C
NM_001357321.1:c.1909T>C	NP_001344250.1:p.Tyr637His
XM_011533029.2:c.1924T>C	XP_011531331.1:p.Tyr642His
XM_011533030.2:c.1921T>C	XP_011531332.1:p.Tyr641His
XR_001738891.1:n.2428T>C
XR_939707.2:n.2428T>C
NM_022437.3:c.1912T>C MANE Select	NP_071882.1:p.Tyr638His
NM_001357321.2:c.1909T>C	NP_001344250.1:p.Tyr637His