Canonical Allele Identifier: CA441363088

Gene: AFG2A

Linked Data

• ClinVar Variation Id: 1098239
• ClinVar RCV Id: RCV001420086
• dbSNP Id: rs2125773391
• gnomAD v4: 4-122947262-T-G
• MyVariant Identifiers: chr4:g.123868417T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122947262T>G , CM000666.2:g.122947262T>G	GRCh38
NC_000004.11:g.123868417T>G , CM000666.1:g.123868417T>G	GRCh37
NC_000004.10:g.124087867T>G	NCBI36
NG_051570.1:g.29193T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1488T>G MANE Select	ENSP00000274008.3:p.Leu496=
ENST00000674886.1:n.1550T>G
ENST00000675612.1:c.1485T>G	ENSP00000502453.1:p.Leu495=
ENST00000274008.4:c.1488T>G	ENSP00000274008.3:p.Leu496=
ENST00000422835.2:n.1530T>G
NM_145207.2:c.1488T>G	NP_660208.2:p.Leu496=
XM_005262783.3:c.1485T>G	XP_005262840.1:p.Leu495=
XM_011531678.1:c.1485T>G	XP_011529980.1:p.Leu495=
XM_011531679.1:c.1488T>G	XP_011529981.1:p.Leu496=
NM_001317799.1:c.1485T>G	NP_001304728.1:p.Leu495=
NM_001345856.1:c.1485T>G	NP_001332785.1:p.Leu495=
XM_011531678.2:c.1485T>G	XP_011529980.1:p.Leu495=
XM_011531679.3:c.1488T>G	XP_011529981.1:p.Leu496=
XM_017007825.1:c.1488T>G	XP_016863314.1:p.Leu496=
XM_017007826.1:c.1488T>G	XP_016863315.1:p.Leu496=
XM_017007827.2:c.1488T>G	XP_016863316.1:p.Leu496=
XM_017007828.1:c.1266T>G	XP_016863317.1:p.Leu422=
XM_017007829.1:c.1032T>G	XP_016863318.1:p.Leu344=
XM_017007830.1:c.1488T>G	XP_016863319.1:p.Leu496=
XR_001741151.1:n.1558T>G
NM_145207.3:c.1488T>G MANE Select	NP_660208.2:p.Leu496=
NM_001317799.2:c.1485T>G	NP_001304728.1:p.Leu495=
NM_001345856.2:c.1485T>G	NP_001332785.1:p.Leu495=