Canonical Allele Identifier: CA441363143

Gene: AFG2A

Linked Data

• dbSNP Id: rs1405899902
• gnomAD v2: 4-123868615-A-G
• gnomAD v4: 4-122947460-A-G
• MyVariant Identifiers: chr4:g.123868615A>G (hg19) ; chr4:g.122947460A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122947460A>G , CM000666.2:g.122947460A>G	GRCh38
NC_000004.11:g.123868615A>G , CM000666.1:g.123868615A>G	GRCh37
NC_000004.10:g.124088065A>G	NCBI36
NG_051570.1:g.29391A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1686A>G MANE Select	ENSP00000274008.3:p.Ala562=
ENST00000674886.1:n.1748A>G
ENST00000675612.1:c.1683A>G	ENSP00000502453.1:p.Ala561=
ENST00000274008.4:c.1686A>G	ENSP00000274008.3:p.Ala562=
ENST00000422835.2:n.1728A>G
NM_145207.2:c.1686A>G	NP_660208.2:p.Ala562=
XM_005262783.3:c.1683A>G	XP_005262840.1:p.Ala561=
XM_011531678.1:c.1683A>G	XP_011529980.1:p.Ala561=
XM_011531679.1:c.1686A>G	XP_011529981.1:p.Ala562=
NM_001317799.1:c.1683A>G	NP_001304728.1:p.Ala561=
NM_001345856.1:c.1683A>G	NP_001332785.1:p.Ala561=
XM_011531678.2:c.1683A>G	XP_011529980.1:p.Ala561=
XM_011531679.3:c.1686A>G	XP_011529981.1:p.Ala562=
XM_017007825.1:c.1686A>G	XP_016863314.1:p.Ala562=
XM_017007826.1:c.1686A>G	XP_016863315.1:p.Ala562=
XM_017007827.2:c.1686A>G	XP_016863316.1:p.Ala562=
XM_017007828.1:c.1464A>G	XP_016863317.1:p.Ala488=
XM_017007829.1:c.1230A>G	XP_016863318.1:p.Ala410=
XM_017007830.1:c.1686A>G	XP_016863319.1:p.Ala562=
XR_001741151.1:n.1756A>G
NM_145207.3:c.1686A>G MANE Select	NP_660208.2:p.Ala562=
NM_001317799.2:c.1683A>G	NP_001304728.1:p.Ala561=
NM_001345856.2:c.1683A>G	NP_001332785.1:p.Ala561=