Canonical Allele Identifier: CA1636349

Gene: ABCG5 DYNC2LI1

Linked Data

• ClinVar Variation Id: 2082738
• ClinVar RCV Id: RCV004068373 ; RCV002999366
• dbSNP Id: rs773630787
• ExAC: 2:44051117 A / C
• gnomAD v2: 2-44051117-A-C
• gnomAD v3: 2-43823978-A-C
• gnomAD v4: 2-43823978-A-C
• MyVariant Identifiers: chr2:g.44051117A>C (hg19) ; chr2:g.43823978A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43823978A>C , CM000664.2:g.43823978A>C	GRCh38
NC_000002.11:g.44051117A>C , CM000664.1:g.44051117A>C	GRCh37
NC_000002.10:g.43904621A>C	NCBI36
NG_008883.1:g.19842T>G
NG_053008.1:g.54940A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.1259T>G (ABCG5) MANE Select	ENSP00000384513.2:p.Val420Gly
ENST00000644754.1:n.1643T>G (ABCG5)
ENST00000260645.5:c.1259T>G (ABCG5)	ENSP00000260645.1:p.Val420Gly
ENST00000405322.5:c.746T>G (ABCG5)	ENSP00000384513.1:p.Val249Gly
ENST00000409962.1:c.*133T>G (ABCG5)	ENSP00000386501.1:n.*133T>G
ENST00000486512.5:c.*528T>G (ABCG5)	ENSP00000430935.1:n.*528T>G
NM_022436.2:c.1259T>G (ABCG5)	NP_071881.1:p.Val420Gly
XM_005264364.3:c.*16-3408A>C (DYNC2LI1)	XP_005264421.1:n.*16-3408A>C
XM_005264365.3:c.*16-3408A>C (DYNC2LI1)	XP_005264422.1:n.*16-3408A>C
XM_005264480.2:c.1259T>G (ABCG5)	XP_005264537.1:p.Val420Gly
XM_006712073.2:c.1259T>G (ABCG5)	XP_006712136.1:p.Val420Gly
XM_011533024.1:c.1189+70T>G (ABCG5)	XP_011531326.1:n.1189+70T>G
XM_011533025.1:c.1016T>G (ABCG5)	XP_011531327.1:p.Val339Gly
XM_011533026.1:c.989T>G (ABCG5)	XP_011531328.1:p.Val330Gly
XM_011533027.1:c.746T>G (ABCG5)	XP_011531329.1:p.Val249Gly
XM_011533028.1:c.422T>G (ABCG5)	XP_011531330.1:p.Val141Gly
NM_001348912.1:c.*16-3408A>C (DYNC2LI1)	NP_001335841.1:n.*16-3408A>C
NM_001348913.1:c.*16-3408A>C (DYNC2LI1)	NP_001335842.1:n.*16-3408A>C
XM_005264480.4:c.1259T>G (ABCG5)	XP_005264537.1:p.Val420Gly
XM_006712073.3:c.1259T>G (ABCG5)	XP_006712136.1:p.Val420Gly
XM_011533024.2:c.1189+70T>G (ABCG5)	XP_011531326.1:n.1189+70T>G
XM_011533025.3:c.1016T>G (ABCG5)	XP_011531327.1:p.Val339Gly
XM_011533026.2:c.989T>G (ABCG5)	XP_011531328.1:p.Val330Gly
XM_011533027.3:c.746T>G (ABCG5)	XP_011531329.1:p.Val249Gly
XM_011533028.2:c.422T>G (ABCG5)	XP_011531330.1:p.Val141Gly
NM_022436.3:c.1259T>G (ABCG5) MANE Select	NP_071881.1:p.Val420Gly
NM_001348912.2:c.*16-3408A>C (DYNC2LI1)	NP_001335841.1:n.*16-3408A>C
NM_001348913.2:c.*16-3408A>C (DYNC2LI1)	NP_001335842.1:n.*16-3408A>C