Canonical Allele Identifier: CA1922240612
Gene: SFTPA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79557241G= , CM000672.2:g.79557241G= GRCh38
NC_000010.10:g.81316997G= , CM000672.1:g.81316997G= GRCh37
NG_013046.1:g.8167C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372325.7:c.715C= MANE Select ENSP00000361400.2:p.Leu239=
ENST00000372325.6:c.715C= ENSP00000361400.2:p.Leu239=
ENST00000372327.9:c.715C= ENSP00000361402.5:p.Leu239=
NM_001098668.2:c.715C= NP_001092138.1:p.Leu239=
XM_005270128.2:c.766C= XP_005270185.1:p.Leu256=
XM_005270131.3:c.715C= XP_005270188.1:p.Leu239=
XM_005270132.3:c.715C= XP_005270189.1:p.Leu239=
XM_011540124.1:c.715C= XP_011538426.1:p.Leu239=
XM_011540125.1:c.715C= XP_011538427.1:p.Leu239=
NM_001098668.3:c.715C= NP_001092138.1:p.Leu239=
NM_001320813.1:c.715C= NP_001307742.1:p.Leu239=
NM_001320814.1:c.745C= NP_001307743.1:p.Leu249=
XM_005270128.3:c.766C= XP_005270185.1:p.Leu256=
XM_017016608.1:c.715C= XP_016872097.1:p.Leu239=
NM_001098668.4:c.715C= MANE Select NP_001092138.1:p.Leu239=
NM_001320813.2:c.715C= NP_001307742.1:p.Leu239=