Canonical Allele Identifier: CA358108295

Gene: AFG2A

Linked Data

• ClinVar Variation Id: 1495700
• ClinVar RCV Id: RCV001991519
• dbSNP Id: rs2125773716
• MyVariant Identifiers: chr4:g.123868517C>A (hg19) ; chr4:g.122947362C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122947362C>A , CM000666.2:g.122947362C>A	GRCh38
NC_000004.11:g.123868517C>A , CM000666.1:g.123868517C>A	GRCh37
NC_000004.10:g.124087967C>A	NCBI36
NG_051570.1:g.29293C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274008.5:c.1588C>A MANE Select	ENSP00000274008.3:p.Leu530Ile
ENST00000674886.1:n.1650C>A
ENST00000675612.1:c.1585C>A	ENSP00000502453.1:p.Leu529Ile
ENST00000274008.4:c.1588C>A	ENSP00000274008.3:p.Leu530Ile
ENST00000422835.2:n.1630C>A
NM_145207.2:c.1588C>A	NP_660208.2:p.Leu530Ile
XM_005262783.3:c.1585C>A	XP_005262840.1:p.Leu529Ile
XM_011531678.1:c.1585C>A	XP_011529980.1:p.Leu529Ile
XM_011531679.1:c.1588C>A	XP_011529981.1:p.Leu530Ile
NM_001317799.1:c.1585C>A	NP_001304728.1:p.Leu529Ile
NM_001345856.1:c.1585C>A	NP_001332785.1:p.Leu529Ile
XM_011531678.2:c.1585C>A	XP_011529980.1:p.Leu529Ile
XM_011531679.3:c.1588C>A	XP_011529981.1:p.Leu530Ile
XM_017007825.1:c.1588C>A	XP_016863314.1:p.Leu530Ile
XM_017007826.1:c.1588C>A	XP_016863315.1:p.Leu530Ile
XM_017007827.2:c.1588C>A	XP_016863316.1:p.Leu530Ile
XM_017007828.1:c.1366C>A	XP_016863317.1:p.Leu456Ile
XM_017007829.1:c.1132C>A	XP_016863318.1:p.Leu378Ile
XM_017007830.1:c.1588C>A	XP_016863319.1:p.Leu530Ile
XR_001741151.1:n.1658C>A
NM_145207.3:c.1588C>A MANE Select	NP_660208.2:p.Leu530Ile
NM_001317799.2:c.1585C>A	NP_001304728.1:p.Leu529Ile
NM_001345856.2:c.1585C>A	NP_001332785.1:p.Leu529Ile