Canonical Allele Identifier: CA425872142

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44079745T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43852606T>G , CM000664.2:g.43852606T>G	GRCh38
NC_000002.11:g.44079745T>G , CM000664.1:g.44079745T>G	GRCh37
NC_000002.10:g.43933249T>G	NCBI36
NG_008884.1:g.18643T>G
NG_008884.2:g.25665T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.702T>G MANE Select	ENSP00000272286.2:p.Leu234=
ENST00000644611.1:c.714T>G	ENSP00000495423.1:p.Leu238=
ENST00000272286.2:c.702T>G	ENSP00000272286.2:p.Leu234=
NM_022437.2:c.702T>G	NP_071882.1:p.Leu234=
XM_005264483.2:c.702T>G	XP_005264540.1:p.Leu234=
XM_011533029.1:c.714T>G	XP_011531331.1:p.Leu238=
XM_011533030.1:c.714T>G	XP_011531332.1:p.Leu238=
XM_011533031.1:c.486T>G	XP_011531333.1:p.Leu162=
XR_939707.1:n.1204T>G
NM_001357321.1:c.702T>G	NP_001344250.1:p.Leu234=
XM_011533029.2:c.714T>G	XP_011531331.1:p.Leu238=
XM_011533030.2:c.714T>G	XP_011531332.1:p.Leu238=
XR_001738891.1:n.1218T>G
XR_939707.2:n.1218T>G
NM_022437.3:c.702T>G MANE Select	NP_071882.1:p.Leu234=
NM_001357321.2:c.702T>G	NP_001344250.1:p.Leu234=