Canonical Allele Identifier: CA426116442

Gene: ABCG8

Linked Data

• dbSNP Id: rs1319108440
• gnomAD v2: 2-44102494-C-T
• gnomAD v4: 2-43875355-C-T
• MyVariant Identifiers: chr2:g.44102494C>T (hg19) ; chr2:g.43875355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875355C>T , CM000664.2:g.43875355C>T	GRCh38
NC_000002.11:g.44102494C>T , CM000664.1:g.44102494C>T	GRCh37
NC_000002.10:g.43955998C>T	NCBI36
NG_008884.1:g.41392C>T
NG_008884.2:g.48414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1698C>T MANE Select	ENSP00000272286.2:p.Leu566=
ENST00000272286.2:c.1698C>T	ENSP00000272286.2:p.Leu566=
NM_022437.2:c.1698C>T	NP_071882.1:p.Leu566=
XM_005264483.2:c.1695C>T	XP_005264540.1:p.Leu565=
XM_011533029.1:c.1710C>T	XP_011531331.1:p.Leu570=
XM_011533030.1:c.1707C>T	XP_011531332.1:p.Leu569=
XM_011533031.1:c.1482C>T	XP_011531333.1:p.Leu494=
XR_939707.1:n.2200C>T
NM_001357321.1:c.1695C>T	NP_001344250.1:p.Leu565=
XM_011533029.2:c.1710C>T	XP_011531331.1:p.Leu570=
XM_011533030.2:c.1707C>T	XP_011531332.1:p.Leu569=
XR_001738891.1:n.2214C>T
XR_939707.2:n.2214C>T
NM_022437.3:c.1698C>T MANE Select	NP_071882.1:p.Leu566=
NM_001357321.2:c.1695C>T	NP_001344250.1:p.Leu565=