Canonical Allele Identifier: CA2119001
Gene: ABCB6 HGNC NCBI
ATG9A HGNC NCBI

Linked Data

dbSNP Id: rs372762654
ExAC: 2:220075428 C / T
gnomAD v2: 2-220075428-C-T
gnomAD v3: 2-219210706-C-T
gnomAD v4: 2-219210706-C-T
MyVariant Identifiers: chr2:g.220075428C>T (hg19) chr2:g.219210706C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219210706C>T , CM000664.2:g.219210706C>T GRCh38
NC_000002.11:g.220075428C>T , CM000664.1:g.220075428C>T GRCh37
NC_000002.10:g.219783672C>T NCBI36
NG_032110.1:g.13285G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265316.9:c.2256+5G>A (ABCB6) MANE Select ENSP00000265316.3:n.2256+5G>A
ENST00000295750.5:c.2118+5G>A (ABCB6) ENSP00000295750.5:n.2118+5G>A
ENST00000265316.7:c.2256+5G>A (ABCB6) ENSP00000265316.3:n.2256+5G>A
ENST00000295750.4:c.1799+5G>A (ABCB6)
ENST00000443805.1:c.244+5G>A (ABCB6)
ENST00000446716.5:c.4806+5G>A (ATG9A)
ENST00000485773.5:n.293G>A (ABCB6)
ENST00000487380.5:n.329+5G>A (ABCB6)
ENST00000497882.5:n.2569+5G>A (ABCB6)
NM_005689.2:c.2256+5G>A (ABCB6) NP_005680.1:n.2256+5G>A
NM_001349828.1:c.2118+5G>A (ABCB6) NP_001336757.1:n.2118+5G>A
NM_005689.3:c.2256+5G>A (ABCB6) NP_005680.1:n.2256+5G>A
NM_005689.4:c.2256+5G>A (ABCB6) MANE Select NP_005680.1:n.2256+5G>A
NM_001349828.2:c.2118+5G>A (ABCB6) NP_001336757.1:n.2118+5G>A
Search 100 bp 5'
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