Canonical Allele Identifier: CA431421966

Gene: ABCB6 ATG9A

Linked Data

• MyVariant Identifiers: chr2:g.220075442C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210720C>T , CM000664.2:g.219210720C>T	GRCh38
NC_000002.11:g.220075442C>T , CM000664.1:g.220075442C>T	GRCh37
NC_000002.10:g.219783686C>T	NCBI36
NG_032110.1:g.13271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.2247G>A (ABCB6) MANE Select	ENSP00000265316.3:p.Leu749=
ENST00000295750.5:c.2109G>A (ABCB6)	ENSP00000295750.5:p.Leu703=
ENST00000265316.7:c.2247G>A (ABCB6)	ENSP00000265316.3:p.Leu749=
ENST00000295750.4:c.1790G>A (ABCB6)
ENST00000443805.1:c.235G>A (ABCB6)
ENST00000446716.5:c.4797G>A (ATG9A)
ENST00000485773.5:n.279G>A (ABCB6)
ENST00000487380.5:n.320G>A (ABCB6)
ENST00000492543.1:n.797G>A (ABCB6)
ENST00000497882.5:n.2560G>A (ABCB6)
NM_005689.2:c.2247G>A (ABCB6)	NP_005680.1:p.Leu749=
NM_001349828.1:c.2109G>A (ABCB6)	NP_001336757.1:p.Leu703=
NM_005689.3:c.2247G>A (ABCB6)	NP_005680.1:p.Leu749=
NM_005689.4:c.2247G>A (ABCB6) MANE Select	NP_005680.1:p.Leu749=
NM_001349828.2:c.2109G>A (ABCB6)	NP_001336757.1:p.Leu703=