Canonical Allele Identifier: CA377352870
Gene: SFTPA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79557340C>G , CM000672.2:g.79557340C>G GRCh38
NC_000010.10:g.81317096C>G , CM000672.1:g.81317096C>G GRCh37
NG_013046.1:g.8068G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372325.7:c.616G>C MANE Select ENSP00000361400.2:p.Val206Leu
ENST00000372325.6:c.616G>C ENSP00000361400.2:p.Val206Leu
ENST00000372327.9:c.616G>C ENSP00000361402.5:p.Val206Leu
NM_001098668.2:c.616G>C NP_001092138.1:p.Val206Leu
XM_005270128.2:c.667G>C XP_005270185.1:p.Val223Leu
XM_005270131.3:c.616G>C XP_005270188.1:p.Val206Leu
XM_005270132.3:c.616G>C XP_005270189.1:p.Val206Leu
XM_011540124.1:c.616G>C XP_011538426.1:p.Val206Leu
XM_011540125.1:c.616G>C XP_011538427.1:p.Val206Leu
NM_001098668.3:c.616G>C NP_001092138.1:p.Val206Leu
NM_001320813.1:c.616G>C NP_001307742.1:p.Val206Leu
NM_001320814.1:c.646G>C NP_001307743.1:p.Val216Leu
XM_005270128.3:c.667G>C XP_005270185.1:p.Val223Leu
XM_017016608.1:c.616G>C XP_016872097.1:p.Val206Leu
NM_001098668.4:c.616G>C MANE Select NP_001092138.1:p.Val206Leu
NM_001320813.2:c.616G>C NP_001307742.1:p.Val206Leu