Canonical Allele Identifier: CA377352673
Gene: SFTPA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79557251G>T , CM000672.2:g.79557251G>T GRCh38
NC_000010.10:g.81317007G>T , CM000672.1:g.81317007G>T GRCh37
NG_013046.1:g.8157C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372325.7:c.705C>A MANE Select ENSP00000361400.2:p.Asp235Glu
ENST00000372325.6:c.705C>A ENSP00000361400.2:p.Asp235Glu
ENST00000372327.9:c.705C>A ENSP00000361402.5:p.Asp235Glu
NM_001098668.2:c.705C>A NP_001092138.1:p.Asp235Glu
XM_005270128.2:c.756C>A XP_005270185.1:p.Asp252Glu
XM_005270131.3:c.705C>A XP_005270188.1:p.Asp235Glu
XM_005270132.3:c.705C>A XP_005270189.1:p.Asp235Glu
XM_011540124.1:c.705C>A XP_011538426.1:p.Asp235Glu
XM_011540125.1:c.705C>A XP_011538427.1:p.Asp235Glu
NM_001098668.3:c.705C>A NP_001092138.1:p.Asp235Glu
NM_001320813.1:c.705C>A NP_001307742.1:p.Asp235Glu
NM_001320814.1:c.735C>A NP_001307743.1:p.Asp245Glu
XM_005270128.3:c.756C>A XP_005270185.1:p.Asp252Glu
XM_017016608.1:c.705C>A XP_016872097.1:p.Asp235Glu
NM_001098668.4:c.705C>A MANE Select NP_001092138.1:p.Asp235Glu
NM_001320813.2:c.705C>A NP_001307742.1:p.Asp235Glu