Canonical Allele Identifier: CA346670666

Gene: ABCG8

Linked Data

• dbSNP Id: rs751667923
• gnomAD v2: 2-44102520-G-T
• gnomAD v3: 2-43875381-G-T
• gnomAD v4: 2-43875381-G-T
• MyVariant Identifiers: chr2:g.44102520G>T (hg19) ; chr2:g.43875381G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875381G>T , CM000664.2:g.43875381G>T	GRCh38
NC_000002.11:g.44102520G>T , CM000664.1:g.44102520G>T	GRCh37
NC_000002.10:g.43956024G>T	NCBI36
NG_008884.1:g.41418G>T
NG_008884.2:g.48440G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1724G>T MANE Select	ENSP00000272286.2:p.Gly575Val
ENST00000272286.2:c.1724G>T	ENSP00000272286.2:p.Gly575Val
NM_022437.2:c.1724G>T	NP_071882.1:p.Gly575Val
XM_005264483.2:c.1721G>T	XP_005264540.1:p.Gly574Val
XM_011533029.1:c.1736G>T	XP_011531331.1:p.Gly579Val
XM_011533030.1:c.1733G>T	XP_011531332.1:p.Gly578Val
XM_011533031.1:c.1508G>T	XP_011531333.1:p.Gly503Val
XR_939707.1:n.2226G>T
NM_001357321.1:c.1721G>T	NP_001344250.1:p.Gly574Val
XM_011533029.2:c.1736G>T	XP_011531331.1:p.Gly579Val
XM_011533030.2:c.1733G>T	XP_011531332.1:p.Gly578Val
XR_001738891.1:n.2240G>T
XR_939707.2:n.2240G>T
NM_022437.3:c.1724G>T MANE Select	NP_071882.1:p.Gly575Val
NM_001357321.2:c.1721G>T	NP_001344250.1:p.Gly574Val