Canonical Allele Identifier: CA2118885

Gene: ABCB6 ATG9A

Linked Data

• ClinVar Variation Id: 2062898
• ClinVar RCV Id: RCV002958092 ; RCV002958093
• dbSNP Id: rs768341073
• ExAC: 2:220074764 C / T
• gnomAD v2: 2-220074764-C-T
• gnomAD v3: 2-219210042-C-T
• gnomAD v4: 2-219210042-C-T
• MyVariant Identifiers: chr2:g.220074764C>T (hg19) ; chr2:g.219210042C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210042C>T , CM000664.2:g.219210042C>T	GRCh38
NC_000002.11:g.220074764C>T , CM000664.1:g.220074764C>T	GRCh37
NC_000002.10:g.219783008C>T	NCBI36
NG_032110.1:g.13949G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2425G>A (ABCB6) MANE Select	ENSP00000265316.3:p.Glu809Lys
ENST00000295750.5:c.2287G>A (ABCB6)	ENSP00000295750.5:p.Glu763Lys
ENST00000265316.7:c.2425G>A (ABCB6)	ENSP00000265316.3:p.Glu809Lys
ENST00000295750.4:c.1968G>A (ABCB6)
ENST00000443805.1:c.413G>A (ABCB6)
ENST00000446716.5:c.4975G>A (ATG9A)
ENST00000485773.5:n.692G>A (ABCB6)
ENST00000487380.5:n.498G>A (ABCB6)
ENST00000497882.5:n.2738G>A (ABCB6)
NM_005689.2:c.2425G>A (ABCB6)	NP_005680.1:p.Glu809Lys
NM_001349828.1:c.2287G>A (ABCB6)	NP_001336757.1:p.Glu763Lys
NM_005689.3:c.2425G>A (ABCB6)	NP_005680.1:p.Glu809Lys
NM_005689.4:c.2425G>A (ABCB6) MANE Select	NP_005680.1:p.Glu809Lys
NM_001349828.2:c.2287G>A (ABCB6)	NP_001336757.1:p.Glu763Lys