Canonical Allele Identifier: CA2119339

Gene: ABCB6 ATG9A

Linked Data

• ClinVar Variation Id: 2712743
• ClinVar RCV Id: RCV003548096
• dbSNP Id: rs200689831
• ExAC: 2:220078565 T / C
• gnomAD v2: 2-220078565-T-C
• gnomAD v3: 2-219213843-T-C
• gnomAD v4: 2-219213843-T-C
• MyVariant Identifiers: chr2:g.220078565T>C (hg19) ; chr2:g.219213843T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219213843T>C , CM000664.2:g.219213843T>C	GRCh38
NC_000002.11:g.220078565T>C , CM000664.1:g.220078565T>C	GRCh37
NC_000002.10:g.219786809T>C	NCBI36
NG_032110.1:g.10148A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.1561A>G (ABCB6) MANE Select	ENSP00000265316.3:p.Thr521Ala
ENST00000295750.5:c.1423A>G (ABCB6)	ENSP00000295750.5:p.Thr475Ala
ENST00000265316.7:c.1561A>G (ABCB6)	ENSP00000265316.3:p.Thr521Ala
ENST00000295750.4:c.1104A>G (ABCB6)
ENST00000446716.5:c.4286A>G (ATG9A)
ENST00000448398.5:c.637A>G (ABCB6)
ENST00000494639.5:n.470A>G (ABCB6)
ENST00000497882.5:n.1874A>G (ABCB6)
NM_005689.2:c.1561A>G (ABCB6)	NP_005680.1:p.Thr521Ala
NM_001349828.1:c.1423A>G (ABCB6)	NP_001336757.1:p.Thr475Ala
NM_005689.3:c.1561A>G (ABCB6)	NP_005680.1:p.Thr521Ala
NM_005689.4:c.1561A>G (ABCB6) MANE Select	NP_005680.1:p.Thr521Ala
NM_001349828.2:c.1423A>G (ABCB6)	NP_001336757.1:p.Thr475Ala