Canonical Allele Identifier: CA350682720

Gene: ABCB6 ATG9A

Linked Data

• MyVariant Identifiers: chr2:g.220075437T>C (hg19) ; chr2:g.219210715T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210715T>C , CM000664.2:g.219210715T>C	GRCh38
NC_000002.11:g.220075437T>C , CM000664.1:g.220075437T>C	GRCh37
NC_000002.10:g.219783681T>C	NCBI36
NG_032110.1:g.13276A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2252A>G (ABCB6) MANE Select	ENSP00000265316.3:p.Asp751Gly
ENST00000295750.5:c.2114A>G (ABCB6)	ENSP00000295750.5:p.Asp705Gly
ENST00000265316.7:c.2252A>G (ABCB6)	ENSP00000265316.3:p.Asp751Gly
ENST00000295750.4:c.1795A>G (ABCB6)
ENST00000443805.1:c.240A>G (ABCB6)
ENST00000446716.5:c.4802A>G (ATG9A)
ENST00000485773.5:n.284A>G (ABCB6)
ENST00000487380.5:n.325A>G (ABCB6)
ENST00000492543.1:n.802A>G (ABCB6)
ENST00000497882.5:n.2565A>G (ABCB6)
NM_005689.2:c.2252A>G (ABCB6)	NP_005680.1:p.Asp751Gly
NM_001349828.1:c.2114A>G (ABCB6)	NP_001336757.1:p.Asp705Gly
NM_005689.3:c.2252A>G (ABCB6)	NP_005680.1:p.Asp751Gly
NM_005689.4:c.2252A>G (ABCB6) MANE Select	NP_005680.1:p.Asp751Gly
NM_001349828.2:c.2114A>G (ABCB6)	NP_001336757.1:p.Asp705Gly