Canonical Allele Identifier: CA350682739

Gene: ABCB6 ATG9A

Linked Data

• MyVariant Identifiers: chr2:g.220075441G>T (hg19) ; chr2:g.219210719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210719G>T , CM000664.2:g.219210719G>T	GRCh38
NC_000002.11:g.220075441G>T , CM000664.1:g.220075441G>T	GRCh37
NC_000002.10:g.219783685G>T	NCBI36
NG_032110.1:g.13272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.2248C>A (ABCB6) MANE Select	ENSP00000265316.3:p.Leu750Met
ENST00000295750.5:c.2110C>A (ABCB6)	ENSP00000295750.5:p.Leu704Met
ENST00000265316.7:c.2248C>A (ABCB6)	ENSP00000265316.3:p.Leu750Met
ENST00000295750.4:c.1791C>A (ABCB6)
ENST00000443805.1:c.236C>A (ABCB6)
ENST00000446716.5:c.4798C>A (ATG9A)
ENST00000485773.5:n.280C>A (ABCB6)
ENST00000487380.5:n.321C>A (ABCB6)
ENST00000492543.1:n.798C>A (ABCB6)
ENST00000497882.5:n.2561C>A (ABCB6)
NM_005689.2:c.2248C>A (ABCB6)	NP_005680.1:p.Leu750Met
NM_001349828.1:c.2110C>A (ABCB6)	NP_001336757.1:p.Leu704Met
NM_005689.3:c.2248C>A (ABCB6)	NP_005680.1:p.Leu750Met
NM_005689.4:c.2248C>A (ABCB6) MANE Select	NP_005680.1:p.Leu750Met
NM_001349828.2:c.2110C>A (ABCB6)	NP_001336757.1:p.Leu704Met