Canonical Allele Identifier: CA2119370
Gene: ABCB6 HGNC NCBI
ATG9A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219213930C>T
GRCh37 chr2:g.220078652C>T
Revel Score:
ENST00000265316 (MANE Select) 0.649
ENST00000439002 0.649
gnomAD v2:
2:220078652 C / T
gnomAD v3:
2:219213930 C / T
gnomAD v4:
chr2-219213930-C-T
Joint Max Group AF 0.00939839 (AMR)
Genomes Max Group AF 0.00980693 (AMR)
Exomes Max Group AF 0.00930379 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219213930C>T , CM000664.2:g.219213930C>T GRCh38
NC_000002.11:g.220078652C>T , CM000664.1:g.220078652C>T GRCh37
NC_000002.10:g.219786896C>T NCBI36
NG_032110.1:g.10061G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265316.9:c.1474G>A (ABCB6) MANE Select ENSP00000265316.3:p.Ala492Thr
ENST00000295750.5:c.1336G>A (ABCB6) ENSP00000295750.5:p.Ala446Thr
ENST00000265316.7:c.1474G>A (ABCB6) ENSP00000265316.3:p.Ala492Thr
ENST00000295750.4:c.1017G>A (ABCB6)
ENST00000446716.5:c.4199G>A (ATG9A)
ENST00000448398.5:c.550G>A (ABCB6)
ENST00000494639.5:n.383G>A (ABCB6)
ENST00000496984.5:n.675G>A (ABCB6)
ENST00000497882.5:n.1787G>A (ABCB6)
NM_005689.2:c.1474G>A (ABCB6) NP_005680.1:p.Ala492Thr
NM_001349828.1:c.1336G>A (ABCB6) NP_001336757.1:p.Ala446Thr
NM_005689.3:c.1474G>A (ABCB6) NP_005680.1:p.Ala492Thr
NM_005689.4:c.1474G>A (ABCB6) MANE Select NP_005680.1:p.Ala492Thr
NM_001349828.2:c.1336G>A (ABCB6) NP_001336757.1:p.Ala446Thr
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