Canonical Allele Identifier: CA2574596585
Gene: SFTPA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79559361_79559370del , CM000672.2:g.79559361_79559370del GRCh38
NC_000010.10:g.81319117_81319126del , CM000672.1:g.81319117_81319126del GRCh37
NG_013046.1:g.6041_6050del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372325.7:c.117_126del MANE Select ENSP00000361400.2:p.His39GlnfsTer?
ENST00000372325.6:c.117_126del ENSP00000361400.2:p.His39GlnfsTer?
ENST00000372327.9:c.117_126del ENSP00000361402.5:p.His39GlnfsTer?
ENST00000417041.1:c.117_126del ENSP00000397375.1:p.His39GlnfsTer?
ENST00000492049.1:c.117_126del ENSP00000473275.1:p.His39GlnfsTer?
NM_001098668.2:c.117_126del NP_001092138.1:p.His39GlnfsTer?
XM_005270128.2:c.168_177del XP_005270185.1:p.His56GlnfsTer?
XM_005270131.3:c.117_126del XP_005270188.1:p.His39GlnfsTer?
XM_005270132.3:c.117_126del XP_005270189.1:p.His39GlnfsTer?
XM_011540124.1:c.117_126del XP_011538426.1:p.His39GlnfsTer?
XM_011540125.1:c.117_126del XP_011538427.1:p.His39GlnfsTer?
NM_001098668.3:c.117_126del NP_001092138.1:p.His39GlnfsTer?
NM_001320813.1:c.117_126del NP_001307742.1:p.His39GlnfsTer?
NM_001320814.1:c.147_156del NP_001307743.1:p.His49GlnfsTer?
XM_005270128.3:c.168_177del XP_005270185.1:p.His56GlnfsTer?
XM_017016608.1:c.117_126del XP_016872097.1:p.His39GlnfsTer?
NM_001098668.4:c.117_126del MANE Select NP_001092138.1:p.His39GlnfsTer?
NM_001320813.2:c.117_126del NP_001307742.1:p.His39GlnfsTer?