Canonical Allele Identifier: CA425908334

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877859-C-T
• MyVariant Identifiers: chr2:g.44104998C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877859C>T , CM000664.2:g.43877859C>T	GRCh38
NC_000002.11:g.44104998C>T , CM000664.1:g.44104998C>T	GRCh37
NC_000002.10:g.43958502C>T	NCBI36
NG_008884.1:g.43896C>T
NG_008884.2:g.50918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1968C>T MANE Select	ENSP00000272286.2:p.Val656=
ENST00000272286.2:c.1968C>T	ENSP00000272286.2:p.Val656=
NM_022437.2:c.1968C>T	NP_071882.1:p.Val656=
XM_005264483.2:c.1965C>T	XP_005264540.1:p.Val655=
XM_011533029.1:c.1980C>T	XP_011531331.1:p.Val660=
XM_011533030.1:c.1977C>T	XP_011531332.1:p.Val659=
XM_011533031.1:c.1752C>T	XP_011531333.1:p.Val584=
XR_939707.1:n.2470C>T
NM_001357321.1:c.1965C>T	NP_001344250.1:p.Val655=
XM_011533029.2:c.1980C>T	XP_011531331.1:p.Val660=
XM_011533030.2:c.1977C>T	XP_011531332.1:p.Val659=
XR_001738891.1:n.2484C>T
XR_939707.2:n.2484C>T
NM_022437.3:c.1968C>T MANE Select	NP_071882.1:p.Val656=
NM_001357321.2:c.1965C>T	NP_001344250.1:p.Val655=