Canonical Allele Identifier: CA2118888

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs761325184
• ExAC: 2:220074765 G / A
• gnomAD v2: 2-220074765-G-A
• gnomAD v4: 2-219210043-G-A
• MyVariant Identifiers: chr2:g.220074765G>A (hg19) ; chr2:g.219210043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210043G>A , CM000664.2:g.219210043G>A	GRCh38
NC_000002.11:g.220074765G>A , CM000664.1:g.220074765G>A	GRCh37
NC_000002.10:g.219783009G>A	NCBI36
NG_032110.1:g.13948C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2424C>T (ABCB6) MANE Select	ENSP00000265316.3:p.His808=
ENST00000295750.5:c.2286C>T (ABCB6)	ENSP00000295750.5:p.His762=
ENST00000265316.7:c.2424C>T (ABCB6)	ENSP00000265316.3:p.His808=
ENST00000295750.4:c.1967C>T (ABCB6)
ENST00000443805.1:c.412C>T (ABCB6)
ENST00000446716.5:c.4974C>T (ATG9A)
ENST00000485773.5:n.691C>T (ABCB6)
ENST00000487380.5:n.497C>T (ABCB6)
ENST00000497882.5:n.2737C>T (ABCB6)
NM_005689.2:c.2424C>T (ABCB6)	NP_005680.1:p.His808=
NM_001349828.1:c.2286C>T (ABCB6)	NP_001336757.1:p.His762=
NM_005689.3:c.2424C>T (ABCB6)	NP_005680.1:p.His808=
NM_005689.4:c.2424C>T (ABCB6) MANE Select	NP_005680.1:p.His808=
NM_001349828.2:c.2286C>T (ABCB6)	NP_001336757.1:p.His762=