Canonical Allele Identifier: CA346671273

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104949T>C (hg19) ; chr2:g.43877810T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877810T>C , CM000664.2:g.43877810T>C	GRCh38
NC_000002.11:g.44104949T>C , CM000664.1:g.44104949T>C	GRCh37
NC_000002.10:g.43958453T>C	NCBI36
NG_008884.1:g.43847T>C
NG_008884.2:g.50869T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1919T>C MANE Select	ENSP00000272286.2:p.Leu640Pro
ENST00000272286.2:c.1919T>C	ENSP00000272286.2:p.Leu640Pro
NM_022437.2:c.1919T>C	NP_071882.1:p.Leu640Pro
XM_005264483.2:c.1916T>C	XP_005264540.1:p.Leu639Pro
XM_011533029.1:c.1931T>C	XP_011531331.1:p.Leu644Pro
XM_011533030.1:c.1928T>C	XP_011531332.1:p.Leu643Pro
XM_011533031.1:c.1703T>C	XP_011531333.1:p.Leu568Pro
XR_939707.1:n.2421T>C
NM_001357321.1:c.1916T>C	NP_001344250.1:p.Leu639Pro
XM_011533029.2:c.1931T>C	XP_011531331.1:p.Leu644Pro
XM_011533030.2:c.1928T>C	XP_011531332.1:p.Leu643Pro
XR_001738891.1:n.2435T>C
XR_939707.2:n.2435T>C
NM_022437.3:c.1919T>C MANE Select	NP_071882.1:p.Leu640Pro
NM_001357321.2:c.1916T>C	NP_001344250.1:p.Leu639Pro