Canonical Allele Identifier: CA377352671
Gene: SFTPA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79557250T>C , CM000672.2:g.79557250T>C GRCh38
NC_000010.10:g.81317006T>C , CM000672.1:g.81317006T>C GRCh37
NG_013046.1:g.8158A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372325.7:c.706A>G MANE Select ENSP00000361400.2:p.Arg236Gly
ENST00000372325.6:c.706A>G ENSP00000361400.2:p.Arg236Gly
ENST00000372327.9:c.706A>G ENSP00000361402.5:p.Arg236Gly
NM_001098668.2:c.706A>G NP_001092138.1:p.Arg236Gly
XM_005270128.2:c.757A>G XP_005270185.1:p.Arg253Gly
XM_005270131.3:c.706A>G XP_005270188.1:p.Arg236Gly
XM_005270132.3:c.706A>G XP_005270189.1:p.Arg236Gly
XM_011540124.1:c.706A>G XP_011538426.1:p.Arg236Gly
XM_011540125.1:c.706A>G XP_011538427.1:p.Arg236Gly
NM_001098668.3:c.706A>G NP_001092138.1:p.Arg236Gly
NM_001320813.1:c.706A>G NP_001307742.1:p.Arg236Gly
NM_001320814.1:c.736A>G NP_001307743.1:p.Arg246Gly
XM_005270128.3:c.757A>G XP_005270185.1:p.Arg253Gly
XM_017016608.1:c.706A>G XP_016872097.1:p.Arg236Gly
NM_001098668.4:c.706A>G MANE Select NP_001092138.1:p.Arg236Gly
NM_001320813.2:c.706A>G NP_001307742.1:p.Arg236Gly