Canonical Allele Identifier: CA539841676

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs777151575
• gnomAD v2: 2-220075429-G-T
• gnomAD v4: 2-219210707-G-T
• MyVariant Identifiers: chr2:g.220075429G>T (hg19) ; chr2:g.219210707G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210707G>T , CM000664.2:g.219210707G>T	GRCh38
NC_000002.11:g.220075429G>T , CM000664.1:g.220075429G>T	GRCh37
NC_000002.10:g.219783673G>T	NCBI36
NG_032110.1:g.13284C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2256+4C>A (ABCB6) MANE Select	ENSP00000265316.3:n.2256+4C>A
ENST00000295750.5:c.2118+4C>A (ABCB6)	ENSP00000295750.5:n.2118+4C>A
ENST00000265316.7:c.2256+4C>A (ABCB6)	ENSP00000265316.3:n.2256+4C>A
ENST00000295750.4:c.1799+4C>A (ABCB6)
ENST00000443805.1:c.244+4C>A (ABCB6)
ENST00000446716.5:c.4806+4C>A (ATG9A)
ENST00000485773.5:n.292C>A (ABCB6)
ENST00000487380.5:n.329+4C>A (ABCB6)
ENST00000497882.5:n.2569+4C>A (ABCB6)
NM_005689.2:c.2256+4C>A (ABCB6)	NP_005680.1:n.2256+4C>A
NM_001349828.1:c.2118+4C>A (ABCB6)	NP_001336757.1:n.2118+4C>A
NM_005689.3:c.2256+4C>A (ABCB6)	NP_005680.1:n.2256+4C>A
NM_005689.4:c.2256+4C>A (ABCB6) MANE Select	NP_005680.1:n.2256+4C>A
NM_001349828.2:c.2118+4C>A (ABCB6)	NP_001336757.1:n.2118+4C>A