Canonical Allele Identifier: CA823891657

Gene: ATP6V1G2 ATP6V1G2-DDX39B

Genomic Alleles

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

Transcript Alleles

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