Canonical Allele Identifier: CA431421961

Gene: ABCB6 ATG9A

Linked Data

• gnomAD v4: 2-219210717-C-T
• MyVariant Identifiers: chr2:g.220075439C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210717C>T , CM000664.2:g.219210717C>T	GRCh38
NC_000002.11:g.220075439C>T , CM000664.1:g.220075439C>T	GRCh37
NC_000002.10:g.219783683C>T	NCBI36
NG_032110.1:g.13274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.2250G>A (ABCB6) MANE Select	ENSP00000265316.3:p.Leu750=
ENST00000295750.5:c.2112G>A (ABCB6)	ENSP00000295750.5:p.Leu704=
ENST00000265316.7:c.2250G>A (ABCB6)	ENSP00000265316.3:p.Leu750=
ENST00000295750.4:c.1793G>A (ABCB6)
ENST00000443805.1:c.238G>A (ABCB6)
ENST00000446716.5:c.4800G>A (ATG9A)
ENST00000485773.5:n.282G>A (ABCB6)
ENST00000487380.5:n.323G>A (ABCB6)
ENST00000492543.1:n.800G>A (ABCB6)
ENST00000497882.5:n.2563G>A (ABCB6)
NM_005689.2:c.2250G>A (ABCB6)	NP_005680.1:p.Leu750=
NM_001349828.1:c.2112G>A (ABCB6)	NP_001336757.1:p.Leu704=
NM_005689.3:c.2250G>A (ABCB6)	NP_005680.1:p.Leu750=
NM_005689.4:c.2250G>A (ABCB6) MANE Select	NP_005680.1:p.Leu750=
NM_001349828.2:c.2112G>A (ABCB6)	NP_001336757.1:p.Leu704=