Canonical Allele Identifier: CA350682737

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs1950566086
• gnomAD v4: 2-219210718-A-C
• MyVariant Identifiers: chr2:g.220075440A>C (hg19) ; chr2:g.219210718A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210718A>C , CM000664.2:g.219210718A>C	GRCh38
NC_000002.11:g.220075440A>C , CM000664.1:g.220075440A>C	GRCh37
NC_000002.10:g.219783684A>C	NCBI36
NG_032110.1:g.13273T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2249T>G (ABCB6) MANE Select	ENSP00000265316.3:p.Leu750Arg
ENST00000295750.5:c.2111T>G (ABCB6)	ENSP00000295750.5:p.Leu704Arg
ENST00000265316.7:c.2249T>G (ABCB6)	ENSP00000265316.3:p.Leu750Arg
ENST00000295750.4:c.1792T>G (ABCB6)
ENST00000443805.1:c.237T>G (ABCB6)
ENST00000446716.5:c.4799T>G (ATG9A)
ENST00000485773.5:n.281T>G (ABCB6)
ENST00000487380.5:n.322T>G (ABCB6)
ENST00000492543.1:n.799T>G (ABCB6)
ENST00000497882.5:n.2562T>G (ABCB6)
NM_005689.2:c.2249T>G (ABCB6)	NP_005680.1:p.Leu750Arg
NM_001349828.1:c.2111T>G (ABCB6)	NP_001336757.1:p.Leu704Arg
NM_005689.3:c.2249T>G (ABCB6)	NP_005680.1:p.Leu750Arg
NM_005689.4:c.2249T>G (ABCB6) MANE Select	NP_005680.1:p.Leu750Arg
NM_001349828.2:c.2111T>G (ABCB6)	NP_001336757.1:p.Leu704Arg