Canonical Allele Identifier: CA1637582

Gene: ABCG8

Linked Data

• dbSNP Id: rs145341486
• ExAC: 2:44102452 G / T
• gnomAD v2: 2-44102452-G-T
• gnomAD v3: 2-43875313-G-T
• gnomAD v4: 2-43875313-G-T
• MyVariant Identifiers: chr2:g.44102452G>T (hg19) ; chr2:g.43875313G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875313G>T , CM000664.2:g.43875313G>T	GRCh38
NC_000002.11:g.44102452G>T , CM000664.1:g.44102452G>T	GRCh37
NC_000002.10:g.43955956G>T	NCBI36
NG_008884.1:g.41350G>T
NG_008884.2:g.48372G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1656G>T MANE Select	ENSP00000272286.2:p.Leu552=
ENST00000272286.2:c.1656G>T	ENSP00000272286.2:p.Leu552=
NM_022437.2:c.1656G>T	NP_071882.1:p.Leu552=
XM_005264483.2:c.1653G>T	XP_005264540.1:p.Leu551=
XM_011533029.1:c.1668G>T	XP_011531331.1:p.Leu556=
XM_011533030.1:c.1665G>T	XP_011531332.1:p.Leu555=
XM_011533031.1:c.1440G>T	XP_011531333.1:p.Leu480=
XR_939707.1:n.2158G>T
NM_001357321.1:c.1653G>T	NP_001344250.1:p.Leu551=
XM_011533029.2:c.1668G>T	XP_011531331.1:p.Leu556=
XM_011533030.2:c.1665G>T	XP_011531332.1:p.Leu555=
XR_001738891.1:n.2172G>T
XR_939707.2:n.2172G>T
NM_022437.3:c.1656G>T MANE Select	NP_071882.1:p.Leu552=
NM_001357321.2:c.1653G>T	NP_001344250.1:p.Leu551=