Canonical Allele Identifier: CA358105975

Gene: AFG2A

Linked Data

• MyVariant Identifiers: chr4:g.123859292T>A (hg19) ; chr4:g.122938137T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122938137T>A , CM000666.2:g.122938137T>A	GRCh38
NC_000004.11:g.123859292T>A , CM000666.1:g.123859292T>A	GRCh37
NC_000004.10:g.124078742T>A	NCBI36
NG_051570.1:g.20068T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1346T>A MANE Select	ENSP00000274008.3:p.Ile449Asn
ENST00000674886.1:n.1408T>A
ENST00000675612.1:c.1343T>A	ENSP00000502453.1:p.Ile448Asn
ENST00000274008.4:c.1346T>A	ENSP00000274008.3:p.Ile449Asn
ENST00000422835.2:n.1388T>A
NM_145207.2:c.1346T>A	NP_660208.2:p.Ile449Asn
XM_005262783.3:c.1343T>A	XP_005262840.1:p.Ile448Asn
XM_011531678.1:c.1343T>A	XP_011529980.1:p.Ile448Asn
XM_011531679.1:c.1346T>A	XP_011529981.1:p.Ile449Asn
NM_001317799.1:c.1343T>A	NP_001304728.1:p.Ile448Asn
NM_001345856.1:c.1343T>A	NP_001332785.1:p.Ile448Asn
XM_011531678.2:c.1343T>A	XP_011529980.1:p.Ile448Asn
XM_011531679.3:c.1346T>A	XP_011529981.1:p.Ile449Asn
XM_017007825.1:c.1346T>A	XP_016863314.1:p.Ile449Asn
XM_017007826.1:c.1346T>A	XP_016863315.1:p.Ile449Asn
XM_017007827.2:c.1346T>A	XP_016863316.1:p.Ile449Asn
XM_017007828.1:c.1124T>A	XP_016863317.1:p.Ile375Asn
XM_017007829.1:c.890T>A	XP_016863318.1:p.Ile297Asn
XM_017007830.1:c.1346T>A	XP_016863319.1:p.Ile449Asn
XR_001741151.1:n.1416T>A
NM_145207.3:c.1346T>A MANE Select	NP_660208.2:p.Ile449Asn
NM_001317799.2:c.1343T>A	NP_001304728.1:p.Ile448Asn
NM_001345856.2:c.1343T>A	NP_001332785.1:p.Ile448Asn