Canonical Allele Identifier: CA441204356

Gene: AFG2A

Linked Data

• ClinVar Variation Id: 1984866
• ClinVar RCV Id: RCV002775715
• gnomAD v4: 4-122938249-A-G
• MyVariant Identifiers: chr4:g.123859404A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122938249A>G , CM000666.2:g.122938249A>G	GRCh38
NC_000004.11:g.123859404A>G , CM000666.1:g.123859404A>G	GRCh37
NC_000004.10:g.124078854A>G	NCBI36
NG_051570.1:g.20180A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1458A>G MANE Select	ENSP00000274008.3:p.Ser486=
ENST00000674886.1:n.1520A>G
ENST00000675612.1:c.1455A>G	ENSP00000502453.1:p.Ser485=
ENST00000274008.4:c.1458A>G	ENSP00000274008.3:p.Ser486=
ENST00000422835.2:n.1500A>G
NM_145207.2:c.1458A>G	NP_660208.2:p.Ser486=
XM_005262783.3:c.1455A>G	XP_005262840.1:p.Ser485=
XM_011531678.1:c.1455A>G	XP_011529980.1:p.Ser485=
XM_011531679.1:c.1458A>G	XP_011529981.1:p.Ser486=
NM_001317799.1:c.1455A>G	NP_001304728.1:p.Ser485=
NM_001345856.1:c.1455A>G	NP_001332785.1:p.Ser485=
XM_011531678.2:c.1455A>G	XP_011529980.1:p.Ser485=
XM_011531679.3:c.1458A>G	XP_011529981.1:p.Ser486=
XM_017007825.1:c.1458A>G	XP_016863314.1:p.Ser486=
XM_017007826.1:c.1458A>G	XP_016863315.1:p.Ser486=
XM_017007827.2:c.1458A>G	XP_016863316.1:p.Ser486=
XM_017007828.1:c.1236A>G	XP_016863317.1:p.Ser412=
XM_017007829.1:c.1002A>G	XP_016863318.1:p.Ser334=
XM_017007830.1:c.1458A>G	XP_016863319.1:p.Ser486=
XR_001741151.1:n.1528A>G
NM_145207.3:c.1458A>G MANE Select	NP_660208.2:p.Ser486=
NM_001317799.2:c.1455A>G	NP_001304728.1:p.Ser485=
NM_001345856.2:c.1455A>G	NP_001332785.1:p.Ser485=