Canonical Allele Identifier: CA1922240658
Gene: SFTPA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79557266A= , CM000672.2:g.79557266A= GRCh38
NC_000010.10:g.81317022A= , CM000672.1:g.81317022A= GRCh37
NG_013046.1:g.8142T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372325.7:c.690T= MANE Select ENSP00000361400.2:p.Asp230=
ENST00000372325.6:c.690T= ENSP00000361400.2:p.Asp230=
ENST00000372327.9:c.690T= ENSP00000361402.5:p.Asp230=
NM_001098668.2:c.690T= NP_001092138.1:p.Asp230=
XM_005270128.2:c.741T= XP_005270185.1:p.Asp247=
XM_005270131.3:c.690T= XP_005270188.1:p.Asp230=
XM_005270132.3:c.690T= XP_005270189.1:p.Asp230=
XM_011540124.1:c.690T= XP_011538426.1:p.Asp230=
XM_011540125.1:c.690T= XP_011538427.1:p.Asp230=
NM_001098668.3:c.690T= NP_001092138.1:p.Asp230=
NM_001320813.1:c.690T= NP_001307742.1:p.Asp230=
NM_001320814.1:c.720T= NP_001307743.1:p.Asp240=
XM_005270128.3:c.741T= XP_005270185.1:p.Asp247=
XM_017016608.1:c.690T= XP_016872097.1:p.Asp230=
NM_001098668.4:c.690T= MANE Select NP_001092138.1:p.Asp230=
NM_001320813.2:c.690T= NP_001307742.1:p.Asp230=