Canonical Allele Identifier: CA539842382

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs1268848145
• gnomAD v2: 2-220082797-C-T
• gnomAD v4: 2-219218075-C-T
• MyVariant Identifiers: chr2:g.220082797C>T (hg19) ; chr2:g.219218075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219218075C>T , CM000664.2:g.219218075C>T	GRCh38
NC_000002.11:g.220082797C>T , CM000664.1:g.220082797C>T	GRCh37
NC_000002.10:g.219791041C>T	NCBI36
NG_032110.1:g.5916G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.549+50G>A (ABCB6) MANE Select	ENSP00000265316.3:n.549+50G>A
ENST00000295750.5:c.549+50G>A (ABCB6)	ENSP00000295750.5:n.549+50G>A
ENST00000265316.7:c.549+50G>A (ABCB6)	ENSP00000265316.3:n.549+50G>A
ENST00000295750.4:c.230+50G>A (ABCB6)
ENST00000417678.5:c.302+50G>A (ABCB6)
ENST00000446716.5:c.3088+50G>A (ATG9A)
ENST00000448398.5:c.352+50G>A (ABCB6)
ENST00000452545.1:c.66+50G>A (ABCB6)	ENSP00000401811.1:n.66+50G>A
NM_005689.2:c.549+50G>A (ABCB6)	NP_005680.1:n.549+50G>A
NM_001349828.1:c.549+50G>A (ABCB6)	NP_001336757.1:n.549+50G>A
NM_005689.3:c.549+50G>A (ABCB6)	NP_005680.1:n.549+50G>A
NM_005689.4:c.549+50G>A (ABCB6) MANE Select	NP_005680.1:n.549+50G>A
NM_001349828.2:c.549+50G>A (ABCB6)	NP_001336757.1:n.549+50G>A