Canonical Allele Identifier: CA1637598

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2739113
• ClinVar RCV Id: RCV003555391
• dbSNP Id: rs776335488
• ExAC: 2:44102501 T / C
• gnomAD v2: 2-44102501-T-C
• gnomAD v4: 2-43875362-T-C
• MyVariant Identifiers: chr2:g.44102501T>C (hg19) ; chr2:g.43875362T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875362T>C , CM000664.2:g.43875362T>C	GRCh38
NC_000002.11:g.44102501T>C , CM000664.1:g.44102501T>C	GRCh37
NC_000002.10:g.43956005T>C	NCBI36
NG_008884.1:g.41399T>C
NG_008884.2:g.48421T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1705T>C MANE Select	ENSP00000272286.2:p.Ser569Pro
ENST00000272286.2:c.1705T>C	ENSP00000272286.2:p.Ser569Pro
NM_022437.2:c.1705T>C	NP_071882.1:p.Ser569Pro
XM_005264483.2:c.1702T>C	XP_005264540.1:p.Ser568Pro
XM_011533029.1:c.1717T>C	XP_011531331.1:p.Ser573Pro
XM_011533030.1:c.1714T>C	XP_011531332.1:p.Ser572Pro
XM_011533031.1:c.1489T>C	XP_011531333.1:p.Ser497Pro
XR_939707.1:n.2207T>C
NM_001357321.1:c.1702T>C	NP_001344250.1:p.Ser568Pro
XM_011533029.2:c.1717T>C	XP_011531331.1:p.Ser573Pro
XM_011533030.2:c.1714T>C	XP_011531332.1:p.Ser572Pro
XR_001738891.1:n.2221T>C
XR_939707.2:n.2221T>C
NM_022437.3:c.1705T>C MANE Select	NP_071882.1:p.Ser569Pro
NM_001357321.2:c.1702T>C	NP_001344250.1:p.Ser568Pro