Canonical Allele Identifier: CA358101458

Gene: AFG2A

Linked Data

• dbSNP Id: rs1425698411
• gnomAD v2: 4-123855303-G-A
• gnomAD v4: 4-122934148-G-A
• MyVariant Identifiers: chr4:g.123855303G>A (hg19) ; chr4:g.122934148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122934148G>A , CM000666.2:g.122934148G>A	GRCh38
NC_000004.11:g.123855303G>A , CM000666.1:g.123855303G>A	GRCh37
NC_000004.10:g.124074753G>A	NCBI36
NG_051570.1:g.16079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.557G>A MANE Select	ENSP00000274008.3:p.Arg186Gln
ENST00000674886.1:n.619G>A
ENST00000675392.1:n.131G>A
ENST00000675612.1:c.554G>A	ENSP00000502453.1:p.Arg185Gln
ENST00000274008.4:c.557G>A	ENSP00000274008.3:p.Arg186Gln
ENST00000422835.2:n.599G>A
NM_145207.2:c.557G>A	NP_660208.2:p.Arg186Gln
XM_005262783.3:c.554G>A	XP_005262840.1:p.Arg185Gln
XM_011531678.1:c.554G>A	XP_011529980.1:p.Arg185Gln
XM_011531679.1:c.557G>A	XP_011529981.1:p.Arg186Gln
NM_001317799.1:c.554G>A	NP_001304728.1:p.Arg185Gln
NM_001345856.1:c.554G>A	NP_001332785.1:p.Arg185Gln
XM_011531678.2:c.554G>A	XP_011529980.1:p.Arg185Gln
XM_011531679.3:c.557G>A	XP_011529981.1:p.Arg186Gln
XM_017007825.1:c.557G>A	XP_016863314.1:p.Arg186Gln
XM_017007826.1:c.557G>A	XP_016863315.1:p.Arg186Gln
XM_017007827.2:c.557G>A	XP_016863316.1:p.Arg186Gln
XM_017007828.1:c.335G>A	XP_016863317.1:p.Arg112Gln
XM_017007829.1:c.101G>A	XP_016863318.1:p.Arg34Gln
XM_017007830.1:c.557G>A	XP_016863319.1:p.Arg186Gln
XR_001741151.1:n.627G>A
NM_145207.3:c.557G>A MANE Select	NP_660208.2:p.Arg186Gln
NM_001317799.2:c.554G>A	NP_001304728.1:p.Arg185Gln
NM_001345856.2:c.554G>A	NP_001332785.1:p.Arg185Gln