Canonical Allele Identifier: CA129258
Gene: ABCB6 HGNC NCBI
ATG9A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219212413G>A
GRCh37 chr2:g.220077135G>A
gnomAD v2:
2:220077135 G / A
gnomAD v3:
2:219212413 G / A
gnomAD v4:
chr2-219212413-G-A
Joint Max Group AF 0.0000859 (NFE)
Genomes Max Group AF 0.00012883 (AMR)
Exomes Max Group AF 0.00008587 (NFE)
ClinVar RCV:
RCV000023436
ClinVar Variation:
30479
dbSNP:
376664522
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219212413G>A , CM000664.2:g.219212413G>A GRCh38
NC_000002.11:g.220077135G>A , CM000664.1:g.220077135G>A GRCh37
NC_000002.10:g.219785379G>A NCBI36
NG_032110.1:g.11578C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265316.9:c.1942C>T (ABCB6) MANE Select ENSP00000265316.3:p.Arg648Ter
ENST00000295750.5:c.1804C>T (ABCB6) ENSP00000295750.5:p.Arg602Ter
ENST00000265316.7:c.1942C>T (ABCB6) ENSP00000265316.3:p.Arg648Ter
ENST00000295750.4:c.1485C>T (ABCB6)
ENST00000446716.5:c.4667C>T (ATG9A)
ENST00000492543.1:n.492C>T (ABCB6)
ENST00000497882.5:n.2255C>T (ABCB6)
NM_005689.2:c.1942C>T (ABCB6) NP_005680.1:p.Arg648Ter
NM_001349828.1:c.1804C>T (ABCB6) NP_001336757.1:p.Arg602Ter
NM_005689.3:c.1942C>T (ABCB6) NP_005680.1:p.Arg648Ter
NM_005689.4:c.1942C>T (ABCB6) MANE Select NP_005680.1:p.Arg648Ter
NM_001349828.2:c.1804C>T (ABCB6) NP_001336757.1:p.Arg602Ter
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