Canonical Allele Identifier: CA2118890

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs772531740
• ExAC: 2:220074770 T / G
• gnomAD v2: 2-220074770-T-G
• gnomAD v4: 2-219210048-T-G
• MyVariant Identifiers: chr2:g.220074770T>G (hg19) ; chr2:g.219210048T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210048T>G , CM000664.2:g.219210048T>G	GRCh38
NC_000002.11:g.220074770T>G , CM000664.1:g.220074770T>G	GRCh37
NC_000002.10:g.219783014T>G	NCBI36
NG_032110.1:g.13943A>C

Transcript Alleles

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