Canonical Allele Identifier: CA358108193

Gene: AFG2A

Linked Data

• ClinVar Variation Id: 856522
• ClinVar RCV Id: RCV001061998
• dbSNP Id: rs1446807404
• gnomAD v2: 4-123868469-C-T
• gnomAD v3: 4-122947314-C-T
• gnomAD v4: 4-122947314-C-T
• COSMIC: COSM1050756
• MyVariant Identifiers: chr4:g.123868469C>T (hg19) ; chr4:g.122947314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122947314C>T , CM000666.2:g.122947314C>T	GRCh38
NC_000004.11:g.123868469C>T , CM000666.1:g.123868469C>T	GRCh37
NC_000004.10:g.124087919C>T	NCBI36
NG_051570.1:g.29245C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1540C>T MANE Select	ENSP00000274008.3:p.Arg514Ter
ENST00000674886.1:n.1602C>T
ENST00000675612.1:c.1537C>T	ENSP00000502453.1:p.Arg513Ter
ENST00000274008.4:c.1540C>T	ENSP00000274008.3:p.Arg514Ter
ENST00000422835.2:n.1582C>T
NM_145207.2:c.1540C>T	NP_660208.2:p.Arg514Ter
XM_005262783.3:c.1537C>T	XP_005262840.1:p.Arg513Ter
XM_011531678.1:c.1537C>T	XP_011529980.1:p.Arg513Ter
XM_011531679.1:c.1540C>T	XP_011529981.1:p.Arg514Ter
NM_001317799.1:c.1537C>T	NP_001304728.1:p.Arg513Ter
NM_001345856.1:c.1537C>T	NP_001332785.1:p.Arg513Ter
XM_011531678.2:c.1537C>T	XP_011529980.1:p.Arg513Ter
XM_011531679.3:c.1540C>T	XP_011529981.1:p.Arg514Ter
XM_017007825.1:c.1540C>T	XP_016863314.1:p.Arg514Ter
XM_017007826.1:c.1540C>T	XP_016863315.1:p.Arg514Ter
XM_017007827.2:c.1540C>T	XP_016863316.1:p.Arg514Ter
XM_017007828.1:c.1318C>T	XP_016863317.1:p.Arg440Ter
XM_017007829.1:c.1084C>T	XP_016863318.1:p.Arg362Ter
XM_017007830.1:c.1540C>T	XP_016863319.1:p.Arg514Ter
XR_001741151.1:n.1610C>T
NM_145207.3:c.1540C>T MANE Select	NP_660208.2:p.Arg514Ter
NM_001317799.2:c.1537C>T	NP_001304728.1:p.Arg513Ter
NM_001345856.2:c.1537C>T	NP_001332785.1:p.Arg513Ter