Canonical Allele Identifier: CA2119004

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs778345833
• ExAC: 2:220075435 C / T
• gnomAD v2: 2-220075435-C-T
• gnomAD v4: 2-219210713-C-T
• MyVariant Identifiers: chr2:g.220075435C>T (hg19) ; chr2:g.219210713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210713C>T , CM000664.2:g.219210713C>T	GRCh38
NC_000002.11:g.220075435C>T , CM000664.1:g.220075435C>T	GRCh37
NC_000002.10:g.219783679C>T	NCBI36
NG_032110.1:g.13278G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2254G>A (ABCB6) MANE Select	ENSP00000265316.3:p.Glu752Lys
ENST00000295750.5:c.2116G>A (ABCB6)	ENSP00000295750.5:p.Glu706Lys
ENST00000265316.7:c.2254G>A (ABCB6)	ENSP00000265316.3:p.Glu752Lys
ENST00000295750.4:c.1797G>A (ABCB6)
ENST00000443805.1:c.242G>A (ABCB6)
ENST00000446716.5:c.4804G>A (ATG9A)
ENST00000485773.5:n.286G>A (ABCB6)
ENST00000487380.5:n.327G>A (ABCB6)
ENST00000492543.1:n.804G>A (ABCB6)
ENST00000497882.5:n.2567G>A (ABCB6)
NM_005689.2:c.2254G>A (ABCB6)	NP_005680.1:p.Glu752Lys
NM_001349828.1:c.2116G>A (ABCB6)	NP_001336757.1:p.Glu706Lys
NM_005689.3:c.2254G>A (ABCB6)	NP_005680.1:p.Glu752Lys
NM_005689.4:c.2254G>A (ABCB6) MANE Select	NP_005680.1:p.Glu752Lys
NM_001349828.2:c.2116G>A (ABCB6)	NP_001336757.1:p.Glu706Lys