Canonical Allele Identifier: CA2119436

Gene: ABCB6 ATG9A

Linked Data

• ClinVar Variation Id: 451541
• ClinVar RCV Id: RCV000520814
• dbSNP Id: rs200074767
• ExAC: 2:220079112 G / A
• gnomAD v2: 2-220079112-G-A
• gnomAD v3: 2-219214390-G-A
• gnomAD v4: 2-219214390-G-A
• MyVariant Identifiers: chr2:g.220079112G>A (hg19) ; chr2:g.219214390G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219214390G>A , CM000664.2:g.219214390G>A	GRCh38
NC_000002.11:g.220079112G>A , CM000664.1:g.220079112G>A	GRCh37
NC_000002.10:g.219787356G>A	NCBI36
NG_032110.1:g.9601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.1385C>T (ABCB6) MANE Select	ENSP00000265316.3:p.Thr462Met
ENST00000295750.5:c.1247C>T (ABCB6)	ENSP00000295750.5:p.Thr416Met
ENST00000265316.7:c.1385C>T (ABCB6)	ENSP00000265316.3:p.Thr462Met
ENST00000295750.4:c.928C>T (ABCB6)
ENST00000417678.5:c.773C>T (ABCB6)
ENST00000446716.5:c.4110C>T (ATG9A)
ENST00000448398.5:c.461C>T (ABCB6)
ENST00000492953.5:n.523C>T (ABCB6)
ENST00000494639.5:n.294C>T (ABCB6)
ENST00000496984.5:n.586C>T (ABCB6)
ENST00000497882.5:n.1496C>T (ABCB6)
NM_005689.2:c.1385C>T (ABCB6)	NP_005680.1:p.Thr462Met
NM_001349828.1:c.1247C>T (ABCB6)	NP_001336757.1:p.Thr416Met
NM_005689.3:c.1385C>T (ABCB6)	NP_005680.1:p.Thr462Met
NM_005689.4:c.1385C>T (ABCB6) MANE Select	NP_005680.1:p.Thr462Met
NM_001349828.2:c.1247C>T (ABCB6)	NP_001336757.1:p.Thr416Met