Canonical Allele Identifier: CA346671551

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44105029C>T (hg19) ; chr2:g.43877890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877890C>T , CM000664.2:g.43877890C>T	GRCh38
NC_000002.11:g.44105029C>T , CM000664.1:g.44105029C>T	GRCh37
NC_000002.10:g.43958533C>T	NCBI36
NG_008884.1:g.43927C>T
NG_008884.2:g.50949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1999C>T MANE Select	ENSP00000272286.2:p.Gln667Ter
ENST00000272286.2:c.1999C>T	ENSP00000272286.2:p.Gln667Ter
NM_022437.2:c.1999C>T	NP_071882.1:p.Gln667Ter
XM_005264483.2:c.1996C>T	XP_005264540.1:p.Gln666Ter
XM_011533029.1:c.2011C>T	XP_011531331.1:p.Gln671Ter
XM_011533030.1:c.2008C>T	XP_011531332.1:p.Gln670Ter
XM_011533031.1:c.1783C>T	XP_011531333.1:p.Gln595Ter
XR_939707.1:n.2501C>T
NM_001357321.1:c.1996C>T	NP_001344250.1:p.Gln666Ter
XM_011533029.2:c.2011C>T	XP_011531331.1:p.Gln671Ter
XM_011533030.2:c.2008C>T	XP_011531332.1:p.Gln670Ter
XR_001738891.1:n.2515C>T
XR_939707.2:n.2515C>T
NM_022437.3:c.1999C>T MANE Select	NP_071882.1:p.Gln667Ter
NM_001357321.2:c.1996C>T	NP_001344250.1:p.Gln666Ter