Canonical Allele Identifier: CA312158

Gene: AFG2A

Linked Data

• ClinVar Variation Id: 203529
• ClinVar RCV Id: RCV000195144
• dbSNP Id: rs796051891
• gnomAD v2: 4-123868502-AATGCT-A
• gnomAD v3: 4-122947347-AATGCT-A
• gnomAD v4: 4-122947347-AATGCT-A
• MyVariant Identifiers: chr4:g.123868503_123868507del (hg19) ; chr4:g.122947348_122947352del (hg38)
• PubMed: PMID:26299366

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122947348_122947352del , CM000666.2:g.122947348_122947352del	GRCh38
NC_000004.11:g.123868503_123868507del , CM000666.1:g.123868503_123868507del	GRCh37
NC_000004.10:g.124087953_124087957del	NCBI36
NG_051570.1:g.29279_29283del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274008.5:c.1574_1578del MANE Select	ENSP00000274008.3:p.Asn525ThrfsTer20
ENST00000674886.1:n.1636_1640del
ENST00000675612.1:c.1571_1575del	ENSP00000502453.1:p.Asn524ThrfsTer20
ENST00000274008.4:c.1574_1578del	ENSP00000274008.3:p.Asn525ThrfsTer20
ENST00000422835.2:n.1616_1620del
NM_145207.2:c.1574_1578del	NP_660208.2:p.Asn525ThrfsTer20
XM_005262783.3:c.1571_1575del	XP_005262840.1:p.Asn524ThrfsTer20
XM_011531678.1:c.1571_1575del	XP_011529980.1:p.Asn524ThrfsTer20
XM_011531679.1:c.1574_1578del	XP_011529981.1:p.Asn525ThrfsTer20
NM_001317799.1:c.1571_1575del	NP_001304728.1:p.Asn524ThrfsTer20
NM_001345856.1:c.1571_1575del	NP_001332785.1:p.Asn524ThrfsTer20
XM_011531678.2:c.1571_1575del	XP_011529980.1:p.Asn524ThrfsTer20
XM_011531679.3:c.1574_1578del	XP_011529981.1:p.Asn525ThrfsTer20
XM_017007825.1:c.1574_1578del	XP_016863314.1:p.Asn525ThrfsTer20
XM_017007826.1:c.1574_1578del	XP_016863315.1:p.Asn525ThrfsTer20
XM_017007827.2:c.1574_1578del	XP_016863316.1:p.Asn525ThrfsTer20
XM_017007828.1:c.1352_1356del	XP_016863317.1:p.Asn451ThrfsTer20
XM_017007829.1:c.1118_1122del	XP_016863318.1:p.Asn373ThrfsTer20
XM_017007830.1:c.1574_1578del	XP_016863319.1:p.Asn525ThrfsTer20
XR_001741151.1:n.1644_1648del
NM_145207.3:c.1574_1578del MANE Select	NP_660208.2:p.Asn525ThrfsTer20
NM_001317799.2:c.1571_1575del	NP_001304728.1:p.Asn524ThrfsTer20
NM_001345856.2:c.1571_1575del	NP_001332785.1:p.Asn524ThrfsTer20