Canonical Allele Identifier: CA377352639
Gene: SFTPA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79557237T>C , CM000672.2:g.79557237T>C GRCh38
NC_000010.10:g.81316993T>C , CM000672.1:g.81316993T>C GRCh37
NG_013046.1:g.8171A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372325.7:c.719A>G MANE Select ENSP00000361400.2:p.Tyr240Cys
ENST00000372325.6:c.719A>G ENSP00000361400.2:p.Tyr240Cys
ENST00000372327.9:c.719A>G ENSP00000361402.5:p.Tyr240Cys
NM_001098668.2:c.719A>G NP_001092138.1:p.Tyr240Cys
XM_005270128.2:c.770A>G XP_005270185.1:p.Tyr257Cys
XM_005270131.3:c.719A>G XP_005270188.1:p.Tyr240Cys
XM_005270132.3:c.719A>G XP_005270189.1:p.Tyr240Cys
XM_011540124.1:c.719A>G XP_011538426.1:p.Tyr240Cys
XM_011540125.1:c.719A>G XP_011538427.1:p.Tyr240Cys
NM_001098668.3:c.719A>G NP_001092138.1:p.Tyr240Cys
NM_001320813.1:c.719A>G NP_001307742.1:p.Tyr240Cys
NM_001320814.1:c.749A>G NP_001307743.1:p.Tyr250Cys
XM_005270128.3:c.770A>G XP_005270185.1:p.Tyr257Cys
XM_017016608.1:c.719A>G XP_016872097.1:p.Tyr240Cys
NM_001098668.4:c.719A>G MANE Select NP_001092138.1:p.Tyr240Cys
NM_001320813.2:c.719A>G NP_001307742.1:p.Tyr240Cys