Canonical Allele Identifier: CA358108281

Gene: AFG2A

Linked Data

• dbSNP Id: rs1730084581
• gnomAD v3: 4-122947354-A-G
• gnomAD v4: 4-122947354-A-G
• MyVariant Identifiers: chr4:g.123868509A>G (hg19) ; chr4:g.122947354A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122947354A>G , CM000666.2:g.122947354A>G	GRCh38
NC_000004.11:g.123868509A>G , CM000666.1:g.123868509A>G	GRCh37
NC_000004.10:g.124087959A>G	NCBI36
NG_051570.1:g.29285A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274008.5:c.1580A>G MANE Select	ENSP00000274008.3:p.Gln527Arg
ENST00000674886.1:n.1642A>G
ENST00000675612.1:c.1577A>G	ENSP00000502453.1:p.Gln526Arg
ENST00000274008.4:c.1580A>G	ENSP00000274008.3:p.Gln527Arg
ENST00000422835.2:n.1622A>G
NM_145207.2:c.1580A>G	NP_660208.2:p.Gln527Arg
XM_005262783.3:c.1577A>G	XP_005262840.1:p.Gln526Arg
XM_011531678.1:c.1577A>G	XP_011529980.1:p.Gln526Arg
XM_011531679.1:c.1580A>G	XP_011529981.1:p.Gln527Arg
NM_001317799.1:c.1577A>G	NP_001304728.1:p.Gln526Arg
NM_001345856.1:c.1577A>G	NP_001332785.1:p.Gln526Arg
XM_011531678.2:c.1577A>G	XP_011529980.1:p.Gln526Arg
XM_011531679.3:c.1580A>G	XP_011529981.1:p.Gln527Arg
XM_017007825.1:c.1580A>G	XP_016863314.1:p.Gln527Arg
XM_017007826.1:c.1580A>G	XP_016863315.1:p.Gln527Arg
XM_017007827.2:c.1580A>G	XP_016863316.1:p.Gln527Arg
XM_017007828.1:c.1358A>G	XP_016863317.1:p.Gln453Arg
XM_017007829.1:c.1124A>G	XP_016863318.1:p.Gln375Arg
XM_017007830.1:c.1580A>G	XP_016863319.1:p.Gln527Arg
XR_001741151.1:n.1650A>G
NM_145207.3:c.1580A>G MANE Select	NP_660208.2:p.Gln527Arg
NM_001317799.2:c.1577A>G	NP_001304728.1:p.Gln526Arg
NM_001345856.2:c.1577A>G	NP_001332785.1:p.Gln526Arg