Canonical Allele Identifier: CA425871649

Gene: ABCG5 DYNC2LI1

Linked Data

• dbSNP Id: rs145755348
• gnomAD v2: 2-44051212-C-G
• gnomAD v4: 2-43824073-C-G
• MyVariant Identifiers: chr2:g.44051212C>G (hg19) ; chr2:g.43824073C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824073C>G , CM000664.2:g.43824073C>G	GRCh38
NC_000002.11:g.44051212C>G , CM000664.1:g.44051212C>G	GRCh37
NC_000002.10:g.43904716C>G	NCBI36
NG_008883.1:g.19747G>C
NG_053008.1:g.55035C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405322.8:c.1164G>C (ABCG5) MANE Select	ENSP00000384513.2:p.Thr388=
ENST00000644754.1:n.1548G>C (ABCG5)
ENST00000260645.5:c.1164G>C (ABCG5)	ENSP00000260645.1:p.Thr388=
ENST00000405322.5:c.651G>C (ABCG5)	ENSP00000384513.1:p.Thr217=
ENST00000409962.1:c.*38G>C (ABCG5)	ENSP00000386501.1:n.*38G>C
ENST00000486512.5:c.*433G>C (ABCG5)	ENSP00000430935.1:n.*433G>C
NM_022436.2:c.1164G>C (ABCG5)	NP_071881.1:p.Thr388=
XM_005264364.3:c.*16-3313C>G (DYNC2LI1)	XP_005264421.1:n.*16-3313C>G
XM_005264365.3:c.*16-3313C>G (DYNC2LI1)	XP_005264422.1:n.*16-3313C>G
XM_005264480.2:c.1164G>C (ABCG5)	XP_005264537.1:p.Thr388=
XM_006712073.2:c.1164G>C (ABCG5)	XP_006712136.1:p.Thr388=
XM_011533024.1:c.1164G>C (ABCG5)	XP_011531326.1:p.Thr388=
XM_011533025.1:c.921G>C (ABCG5)	XP_011531327.1:p.Thr307=
XM_011533026.1:c.894G>C (ABCG5)	XP_011531328.1:p.Thr298=
XM_011533027.1:c.651G>C (ABCG5)	XP_011531329.1:p.Thr217=
XM_011533028.1:c.327G>C (ABCG5)	XP_011531330.1:p.Thr109=
NM_001348912.1:c.*16-3313C>G (DYNC2LI1)	NP_001335841.1:n.*16-3313C>G
NM_001348913.1:c.*16-3313C>G (DYNC2LI1)	NP_001335842.1:n.*16-3313C>G
XM_005264480.4:c.1164G>C (ABCG5)	XP_005264537.1:p.Thr388=
XM_006712073.3:c.1164G>C (ABCG5)	XP_006712136.1:p.Thr388=
XM_011533024.2:c.1164G>C (ABCG5)	XP_011531326.1:p.Thr388=
XM_011533025.3:c.921G>C (ABCG5)	XP_011531327.1:p.Thr307=
XM_011533026.2:c.894G>C (ABCG5)	XP_011531328.1:p.Thr298=
XM_011533027.3:c.651G>C (ABCG5)	XP_011531329.1:p.Thr217=
XM_011533028.2:c.327G>C (ABCG5)	XP_011531330.1:p.Thr109=
NM_022436.3:c.1164G>C (ABCG5) MANE Select	NP_071881.1:p.Thr388=
NM_001348912.2:c.*16-3313C>G (DYNC2LI1)	NP_001335841.1:n.*16-3313C>G
NM_001348913.2:c.*16-3313C>G (DYNC2LI1)	NP_001335842.1:n.*16-3313C>G