Canonical Allele Identifier: CA253375

Gene: ABCG5 DYNC2LI1

Linked Data

• ClinVar Variation Id: 4979
• ClinVar RCV Id: RCV000005267
• dbSNP Id: rs119479067
• gnomAD v2: 2-44051120-C-G
• gnomAD v3: 2-43823981-C-G
• gnomAD v4: 2-43823981-C-G
• MyVariant Identifiers: chr2:g.44051120C>G (hg19) ; chr2:g.43823981C>G (hg38)
• PubMed: PMID:11138003

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43823981C>G , CM000664.2:g.43823981C>G	GRCh38
NC_000002.11:g.44051120C>G , CM000664.1:g.44051120C>G	GRCh37
NC_000002.10:g.43904624C>G	NCBI36
NG_008883.1:g.19839G>C
NG_053008.1:g.54943C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405322.8:c.1256G>C (ABCG5) MANE Select	ENSP00000384513.2:p.Arg419Pro
ENST00000644754.1:n.1640G>C (ABCG5)
ENST00000260645.5:c.1256G>C (ABCG5)	ENSP00000260645.1:p.Arg419Pro
ENST00000405322.5:c.743G>C (ABCG5)	ENSP00000384513.1:p.Arg248Pro
ENST00000409962.1:c.*130G>C (ABCG5)	ENSP00000386501.1:n.*130G>C
ENST00000486512.5:c.*525G>C (ABCG5)	ENSP00000430935.1:n.*525G>C
NM_022436.2:c.1256G>C (ABCG5)	NP_071881.1:p.Arg419Pro
XM_005264364.3:c.*16-3405C>G (DYNC2LI1)	XP_005264421.1:n.*16-3405C>G
XM_005264365.3:c.*16-3405C>G (DYNC2LI1)	XP_005264422.1:n.*16-3405C>G
XM_005264480.2:c.1256G>C (ABCG5)	XP_005264537.1:p.Arg419Pro
XM_006712073.2:c.1256G>C (ABCG5)	XP_006712136.1:p.Arg419Pro
XM_011533024.1:c.1189+67G>C (ABCG5)	XP_011531326.1:n.1189+67G>C
XM_011533025.1:c.1013G>C (ABCG5)	XP_011531327.1:p.Arg338Pro
XM_011533026.1:c.986G>C (ABCG5)	XP_011531328.1:p.Arg329Pro
XM_011533027.1:c.743G>C (ABCG5)	XP_011531329.1:p.Arg248Pro
XM_011533028.1:c.419G>C (ABCG5)	XP_011531330.1:p.Arg140Pro
NM_001348912.1:c.*16-3405C>G (DYNC2LI1)	NP_001335841.1:n.*16-3405C>G
NM_001348913.1:c.*16-3405C>G (DYNC2LI1)	NP_001335842.1:n.*16-3405C>G
XM_005264480.4:c.1256G>C (ABCG5)	XP_005264537.1:p.Arg419Pro
XM_006712073.3:c.1256G>C (ABCG5)	XP_006712136.1:p.Arg419Pro
XM_011533024.2:c.1189+67G>C (ABCG5)	XP_011531326.1:n.1189+67G>C
XM_011533025.3:c.1013G>C (ABCG5)	XP_011531327.1:p.Arg338Pro
XM_011533026.2:c.986G>C (ABCG5)	XP_011531328.1:p.Arg329Pro
XM_011533027.3:c.743G>C (ABCG5)	XP_011531329.1:p.Arg248Pro
XM_011533028.2:c.419G>C (ABCG5)	XP_011531330.1:p.Arg140Pro
NM_022436.3:c.1256G>C (ABCG5) MANE Select	NP_071881.1:p.Arg419Pro
NM_001348912.2:c.*16-3405C>G (DYNC2LI1)	NP_001335841.1:n.*16-3405C>G
NM_001348913.2:c.*16-3405C>G (DYNC2LI1)	NP_001335842.1:n.*16-3405C>G