Canonical Allele Identifier: CA212652
Gene: ABCB6 HGNC NCBI
ATG9A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219210799C>T
GRCh37 chr2:g.220075521C>T
Revel Score:
ENST00000295750 0.070
ENST00000265316 (MANE Select) 0.776
ENST00000439002 0.776
gnomAD v2:
2:220075521 C / T
gnomAD v3:
2:219210799 C / T
gnomAD v4:
chr2-219210799-C-T
Joint Max Group AF 0.00125639 (NFE)
Genomes Max Group AF 0.00111575 (NFE)
Exomes Max Group AF 0.00125265 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219210799C>T , CM000664.2:g.219210799C>T GRCh38
NC_000002.11:g.220075521C>T , CM000664.1:g.220075521C>T GRCh37
NC_000002.10:g.219783765C>T NCBI36
NG_032110.1:g.13192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265316.9:c.2168G>A (ABCB6) MANE Select ENSP00000265316.3:p.Arg723Gln
ENST00000295750.5:c.2030G>A (ABCB6) ENSP00000295750.5:p.Arg677Gln
ENST00000265316.7:c.2168G>A (ABCB6) ENSP00000265316.3:p.Arg723Gln
ENST00000295750.4:c.1711G>A (ABCB6)
ENST00000443805.1:c.156G>A (ABCB6)
ENST00000446716.5:c.4718G>A (ATG9A)
ENST00000485773.5:n.200G>A (ABCB6)
ENST00000487380.5:n.241G>A (ABCB6)
ENST00000492543.1:n.718G>A (ABCB6)
ENST00000497882.5:n.2481G>A (ABCB6)
NM_005689.2:c.2168G>A (ABCB6) NP_005680.1:p.Arg723Gln
NM_001349828.1:c.2030G>A (ABCB6) NP_001336757.1:p.Arg677Gln
NM_005689.3:c.2168G>A (ABCB6) NP_005680.1:p.Arg723Gln
NM_005689.4:c.2168G>A (ABCB6) MANE Select NP_005680.1:p.Arg723Gln
NM_001349828.2:c.2030G>A (ABCB6) NP_001336757.1:p.Arg677Gln
Search 100 bp 5'
Search 100 bp 3'