Canonical Allele Identifier: CA2118895

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs755359852
• ExAC: 2:220074780 A / T
• gnomAD v4: 2-219210058-A-T
• MyVariant Identifiers: chr2:g.220074780A>T (hg19) ; chr2:g.219210058A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210058A>T , CM000664.2:g.219210058A>T	GRCh38
NC_000002.11:g.220074780A>T , CM000664.1:g.220074780A>T	GRCh37
NC_000002.10:g.219783024A>T	NCBI36
NG_032110.1:g.13933T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.2421-12T>A (ABCB6) MANE Select	ENSP00000265316.3:n.2421-12T>A
ENST00000295750.5:c.2283-12T>A (ABCB6)	ENSP00000295750.5:n.2283-12T>A
ENST00000265316.7:c.2421-12T>A (ABCB6)	ENSP00000265316.3:n.2421-12T>A
ENST00000295750.4:c.1964-12T>A (ABCB6)
ENST00000443805.1:c.409-12T>A (ABCB6)
ENST00000446716.5:c.4971-12T>A (ATG9A)
ENST00000485773.5:n.688-12T>A (ABCB6)
ENST00000487380.5:n.494-12T>A (ABCB6)
ENST00000497882.5:n.2734-12T>A (ABCB6)
NM_005689.2:c.2421-12T>A (ABCB6)	NP_005680.1:n.2421-12T>A
NM_001349828.1:c.2283-12T>A (ABCB6)	NP_001336757.1:n.2283-12T>A
NM_005689.3:c.2421-12T>A (ABCB6)	NP_005680.1:n.2421-12T>A
NM_005689.4:c.2421-12T>A (ABCB6) MANE Select	NP_005680.1:n.2421-12T>A
NM_001349828.2:c.2283-12T>A (ABCB6)	NP_001336757.1:n.2283-12T>A