Canonical Allele Identifier: CA1630848392
Gene: SFTPA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79557289G= , CM000672.2:g.79557289G= GRCh38
NC_000010.10:g.81317045G= , CM000672.1:g.81317045G= GRCh37
NG_013046.1:g.8119C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372325.7:c.667C= MANE Select ENSP00000361400.2:p.Gln223=
ENST00000372325.6:c.667C= ENSP00000361400.2:p.Gln223=
ENST00000372327.9:c.667C= ENSP00000361402.5:p.Gln223=
NM_001098668.2:c.667C= NP_001092138.1:p.Gln223=
XM_005270128.2:c.718C= XP_005270185.1:p.Gln240=
XM_005270131.3:c.667C= XP_005270188.1:p.Gln223=
XM_005270132.3:c.667C= XP_005270189.1:p.Gln223=
XM_011540124.1:c.667C= XP_011538426.1:p.Gln223=
XM_011540125.1:c.667C= XP_011538427.1:p.Gln223=
NM_001098668.3:c.667C= NP_001092138.1:p.Gln223=
NM_001320813.1:c.667C= NP_001307742.1:p.Gln223=
NM_001320814.1:c.697C= NP_001307743.1:p.Gln233=
XM_005270128.3:c.718C= XP_005270185.1:p.Gln240=
XM_017016608.1:c.667C= XP_016872097.1:p.Gln223=
NM_001098668.4:c.667C= MANE Select NP_001092138.1:p.Gln223=
NM_001320813.2:c.667C= NP_001307742.1:p.Gln223=