Canonical Allele Identifier: CA104812876

Gene: AFG2A

Linked Data

• ClinVar Variation Id: 1016660
• ClinVar RCV Id: RCV001315695
• dbSNP Id: rs377611654
• MyVariant Identifiers: chr4:g.123855312A>G (hg19) ; chr4:g.122934157A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122934157A>G , CM000666.2:g.122934157A>G	GRCh38
NC_000004.11:g.123855312A>G , CM000666.1:g.123855312A>G	GRCh37
NC_000004.10:g.124074762A>G	NCBI36
NG_051570.1:g.16088A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274008.5:c.566A>G MANE Select	ENSP00000274008.3:p.Lys189Arg
ENST00000674886.1:n.628A>G
ENST00000675392.1:n.140A>G
ENST00000675612.1:c.563A>G	ENSP00000502453.1:p.Lys188Arg
ENST00000274008.4:c.566A>G	ENSP00000274008.3:p.Lys189Arg
ENST00000422835.2:n.608A>G
NM_145207.2:c.566A>G	NP_660208.2:p.Lys189Arg
XM_005262783.3:c.563A>G	XP_005262840.1:p.Lys188Arg
XM_011531678.1:c.563A>G	XP_011529980.1:p.Lys188Arg
XM_011531679.1:c.566A>G	XP_011529981.1:p.Lys189Arg
NM_001317799.1:c.563A>G	NP_001304728.1:p.Lys188Arg
NM_001345856.1:c.563A>G	NP_001332785.1:p.Lys188Arg
XM_011531678.2:c.563A>G	XP_011529980.1:p.Lys188Arg
XM_011531679.3:c.566A>G	XP_011529981.1:p.Lys189Arg
XM_017007825.1:c.566A>G	XP_016863314.1:p.Lys189Arg
XM_017007826.1:c.566A>G	XP_016863315.1:p.Lys189Arg
XM_017007827.2:c.566A>G	XP_016863316.1:p.Lys189Arg
XM_017007828.1:c.344A>G	XP_016863317.1:p.Lys115Arg
XM_017007829.1:c.110A>G	XP_016863318.1:p.Lys37Arg
XM_017007830.1:c.566A>G	XP_016863319.1:p.Lys189Arg
XR_001741151.1:n.636A>G
NM_145207.3:c.566A>G MANE Select	NP_660208.2:p.Lys189Arg
NM_001317799.2:c.563A>G	NP_001304728.1:p.Lys188Arg
NM_001345856.2:c.563A>G	NP_001332785.1:p.Lys188Arg