Canonical Allele Identifier: CA12438037
Gene: ATP6V1G2 HGNC NCBI
ATP6V1G2-DDX39B HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31544943G>C
GRCh37 chr6:g.31512720G>C
gnomAD v2:
6:31512720 G / C
gnomAD v3:
6:31544943 G / C
gnomAD v4:
chr6-31544943-G-C
Joint Max Group AF 0.49714382 (AFR)
Genomes Max Group AF 0.49643423 (AFR)
Exomes Max Group AF 0.48964448 (AFR)
dbSNP:
2071594
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31544943G>C , CM000668.2:g.31544943G>C GRCh38
NC_000006.11:g.31512720G>C , CM000668.1:g.31512720G>C GRCh37
NC_000006.10:g.31620699G>C NCBI36
NG_012344.1:g.3093G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303892.10:c.*465C>G (ATP6V1G2) MANE Select ENSP00000302194.5:n.*465C>G
ENST00000303892.9:c.*465C>G (ATP6V1G2) ENSP00000302194.5:n.*465C>G
ENST00000376151.4:c.*465C>G (ATP6V1G2) ENSP00000365321.4:n.*465C>G
ENST00000376185.5:c.183+1166C>G (ATP6V1G2-DDX39B) ENSP00000365356.1:n.183+1166C>G
ENST00000475917.1:n.218-185C>G (ATP6V1G2-DDX39B)
ENST00000480131.1:c.183+1166C>G (ATP6V1G2-DDX39B) ENSP00000420191.1:n.183+1166C>G
NM_001204078.1:c.*465C>G (ATP6V1G2) NP_001191007.1:n.*465C>G
NM_130463.3:c.*465C>G (ATP6V1G2) NP_569730.1:n.*465C>G
NM_138282.2:c.*465C>G (ATP6V1G2) NP_612139.1:n.*465C>G
NR_037853.1:n.472+1166C>G (ATP6V1G2-DDX39B)
NM_001204078.2:c.*465C>G (ATP6V1G2) NP_001191007.1:n.*465C>G
NM_130463.4:c.*465C>G (ATP6V1G2) MANE Select NP_569730.1:n.*465C>G
NM_138282.3:c.*465C>G (ATP6V1G2) NP_612139.1:n.*465C>G
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