Canonical Allele Identifier: CA16618030
Gene: AFG2A HGNC NCBI

Linked Data

ClinVar Variation Id: 424090
ClinVar RCV Id: RCV000478396
dbSNP Id: rs1064796791

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122938233T>C , CM000666.2:g.122938233T>C GRCh38
NC_000004.11:g.123859388T>C , CM000666.1:g.123859388T>C GRCh37
NC_000004.10:g.124078838T>C NCBI36
NG_051570.1:g.20164T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274008.5:c.1442T>C MANE Select ENSP00000274008.3:p.Met481Thr
ENST00000674886.1:n.1504T>C
ENST00000675612.1:c.1439T>C ENSP00000502453.1:p.Met480Thr
ENST00000274008.4:c.1442T>C ENSP00000274008.3:p.Met481Thr
ENST00000422835.2:n.1484T>C
NM_145207.2:c.1442T>C NP_660208.2:p.Met481Thr
XM_005262783.3:c.1439T>C XP_005262840.1:p.Met480Thr
XM_011531678.1:c.1439T>C XP_011529980.1:p.Met480Thr
XM_011531679.1:c.1442T>C XP_011529981.1:p.Met481Thr
NM_001317799.1:c.1439T>C NP_001304728.1:p.Met480Thr
NM_001345856.1:c.1439T>C NP_001332785.1:p.Met480Thr
XM_011531678.2:c.1439T>C XP_011529980.1:p.Met480Thr
XM_011531679.3:c.1442T>C XP_011529981.1:p.Met481Thr
XM_017007825.1:c.1442T>C XP_016863314.1:p.Met481Thr
XM_017007826.1:c.1442T>C XP_016863315.1:p.Met481Thr
XM_017007827.2:c.1442T>C XP_016863316.1:p.Met481Thr
XM_017007828.1:c.1220T>C XP_016863317.1:p.Met407Thr
XM_017007829.1:c.986T>C XP_016863318.1:p.Met329Thr
XM_017007830.1:c.1442T>C XP_016863319.1:p.Met481Thr
XR_001741151.1:n.1512T>C
NM_145207.3:c.1442T>C MANE Select NP_660208.2:p.Met481Thr
NM_001317799.2:c.1439T>C NP_001304728.1:p.Met480Thr
NM_001345856.2:c.1439T>C NP_001332785.1:p.Met480Thr