Canonical Allele Identifier: CA350682770

Gene: ABCB6 ATG9A

Linked Data

• MyVariant Identifiers: chr2:g.220075447T>C (hg19) ; chr2:g.219210725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210725T>C , CM000664.2:g.219210725T>C	GRCh38
NC_000002.11:g.220075447T>C , CM000664.1:g.220075447T>C	GRCh37
NC_000002.10:g.219783691T>C	NCBI36
NG_032110.1:g.13266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.2242A>G (ABCB6) MANE Select	ENSP00000265316.3:p.Ile748Val
ENST00000295750.5:c.2104A>G (ABCB6)	ENSP00000295750.5:p.Ile702Val
ENST00000265316.7:c.2242A>G (ABCB6)	ENSP00000265316.3:p.Ile748Val
ENST00000295750.4:c.1785A>G (ABCB6)
ENST00000443805.1:c.230A>G (ABCB6)
ENST00000446716.5:c.4792A>G (ATG9A)
ENST00000485773.5:n.274A>G (ABCB6)
ENST00000487380.5:n.315A>G (ABCB6)
ENST00000492543.1:n.792A>G (ABCB6)
ENST00000497882.5:n.2555A>G (ABCB6)
NM_005689.2:c.2242A>G (ABCB6)	NP_005680.1:p.Ile748Val
NM_001349828.1:c.2104A>G (ABCB6)	NP_001336757.1:p.Ile702Val
NM_005689.3:c.2242A>G (ABCB6)	NP_005680.1:p.Ile748Val
NM_005689.4:c.2242A>G (ABCB6) MANE Select	NP_005680.1:p.Ile748Val
NM_001349828.2:c.2104A>G (ABCB6)	NP_001336757.1:p.Ile702Val