Canonical Allele Identifier: CA3070438
Gene: AFG2A HGNC NCBI

Linked Data

ClinVar Variation Id: 947944
ClinVar RCV Id: RCV001219099
dbSNP Id: rs536233030

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122938127C>T , CM000666.2:g.122938127C>T GRCh38
NC_000004.11:g.123859282C>T , CM000666.1:g.123859282C>T GRCh37
NC_000004.10:g.124078732C>T NCBI36
NG_051570.1:g.20058C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274008.5:c.1336C>T MANE Select ENSP00000274008.3:p.His446Tyr
ENST00000674886.1:n.1398C>T
ENST00000675612.1:c.1333C>T ENSP00000502453.1:p.His445Tyr
ENST00000274008.4:c.1336C>T ENSP00000274008.3:p.His446Tyr
ENST00000422835.2:n.1378C>T
NM_145207.2:c.1336C>T NP_660208.2:p.His446Tyr
XM_005262783.3:c.1333C>T XP_005262840.1:p.His445Tyr
XM_011531678.1:c.1333C>T XP_011529980.1:p.His445Tyr
XM_011531679.1:c.1336C>T XP_011529981.1:p.His446Tyr
NM_001317799.1:c.1333C>T NP_001304728.1:p.His445Tyr
NM_001345856.1:c.1333C>T NP_001332785.1:p.His445Tyr
XM_011531678.2:c.1333C>T XP_011529980.1:p.His445Tyr
XM_011531679.3:c.1336C>T XP_011529981.1:p.His446Tyr
XM_017007825.1:c.1336C>T XP_016863314.1:p.His446Tyr
XM_017007826.1:c.1336C>T XP_016863315.1:p.His446Tyr
XM_017007827.2:c.1336C>T XP_016863316.1:p.His446Tyr
XM_017007828.1:c.1114C>T XP_016863317.1:p.His372Tyr
XM_017007829.1:c.880C>T XP_016863318.1:p.His294Tyr
XM_017007830.1:c.1336C>T XP_016863319.1:p.His446Tyr
XR_001741151.1:n.1406C>T
NM_145207.3:c.1336C>T MANE Select NP_660208.2:p.His446Tyr
NM_001317799.2:c.1333C>T NP_001304728.1:p.His445Tyr
NM_001345856.2:c.1333C>T NP_001332785.1:p.His445Tyr