Canonical Allele Identifier: CA346664202

Gene: ABCG5 DYNC2LI1

Linked Data

• gnomAD v4: 2-43823994-C-A
• MyVariant Identifiers: chr2:g.44051133C>A (hg19) ; chr2:g.43823994C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43823994C>A , CM000664.2:g.43823994C>A	GRCh38
NC_000002.11:g.44051133C>A , CM000664.1:g.44051133C>A	GRCh37
NC_000002.10:g.43904637C>A	NCBI36
NG_008883.1:g.19826G>T
NG_053008.1:g.54956C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.1243G>T (ABCG5) MANE Select	ENSP00000384513.2:p.Ala415Ser
ENST00000644754.1:n.1627G>T (ABCG5)
ENST00000260645.5:c.1243G>T (ABCG5)	ENSP00000260645.1:p.Ala415Ser
ENST00000405322.5:c.730G>T (ABCG5)	ENSP00000384513.1:p.Ala244Ser
ENST00000409962.1:c.*117G>T (ABCG5)	ENSP00000386501.1:n.*117G>T
ENST00000486512.5:c.*512G>T (ABCG5)	ENSP00000430935.1:n.*512G>T
NM_022436.2:c.1243G>T (ABCG5)	NP_071881.1:p.Ala415Ser
XM_005264364.3:c.*16-3392C>A (DYNC2LI1)	XP_005264421.1:n.*16-3392C>A
XM_005264365.3:c.*16-3392C>A (DYNC2LI1)	XP_005264422.1:n.*16-3392C>A
XM_005264480.2:c.1243G>T (ABCG5)	XP_005264537.1:p.Ala415Ser
XM_006712073.2:c.1243G>T (ABCG5)	XP_006712136.1:p.Ala415Ser
XM_011533024.1:c.1189+54G>T (ABCG5)	XP_011531326.1:n.1189+54G>T
XM_011533025.1:c.1000G>T (ABCG5)	XP_011531327.1:p.Ala334Ser
XM_011533026.1:c.973G>T (ABCG5)	XP_011531328.1:p.Ala325Ser
XM_011533027.1:c.730G>T (ABCG5)	XP_011531329.1:p.Ala244Ser
XM_011533028.1:c.406G>T (ABCG5)	XP_011531330.1:p.Ala136Ser
NM_001348912.1:c.*16-3392C>A (DYNC2LI1)	NP_001335841.1:n.*16-3392C>A
NM_001348913.1:c.*16-3392C>A (DYNC2LI1)	NP_001335842.1:n.*16-3392C>A
XM_005264480.4:c.1243G>T (ABCG5)	XP_005264537.1:p.Ala415Ser
XM_006712073.3:c.1243G>T (ABCG5)	XP_006712136.1:p.Ala415Ser
XM_011533024.2:c.1189+54G>T (ABCG5)	XP_011531326.1:n.1189+54G>T
XM_011533025.3:c.1000G>T (ABCG5)	XP_011531327.1:p.Ala334Ser
XM_011533026.2:c.973G>T (ABCG5)	XP_011531328.1:p.Ala325Ser
XM_011533027.3:c.730G>T (ABCG5)	XP_011531329.1:p.Ala244Ser
XM_011533028.2:c.406G>T (ABCG5)	XP_011531330.1:p.Ala136Ser
NM_022436.3:c.1243G>T (ABCG5) MANE Select	NP_071881.1:p.Ala415Ser
NM_001348912.2:c.*16-3392C>A (DYNC2LI1)	NP_001335841.1:n.*16-3392C>A
NM_001348913.2:c.*16-3392C>A (DYNC2LI1)	NP_001335842.1:n.*16-3392C>A