Canonical Allele Identifier: CA470414526
Gene: SFTPA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.81317115G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79557359G>C , CM000672.2:g.79557359G>C GRCh38
NC_000010.10:g.81317115G>C , CM000672.1:g.81317115G>C GRCh37
NG_013046.1:g.8049C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372325.7:c.597C>G MANE Select ENSP00000361400.2:p.Arg199=
ENST00000372325.6:c.597C>G ENSP00000361400.2:p.Arg199=
ENST00000372327.9:c.597C>G ENSP00000361402.5:p.Arg199=
NM_001098668.2:c.597C>G NP_001092138.1:p.Arg199=
XM_005270128.2:c.648C>G XP_005270185.1:p.Arg216=
XM_005270131.3:c.597C>G XP_005270188.1:p.Arg199=
XM_005270132.3:c.597C>G XP_005270189.1:p.Arg199=
XM_011540124.1:c.597C>G XP_011538426.1:p.Arg199=
XM_011540125.1:c.597C>G XP_011538427.1:p.Arg199=
NM_001098668.3:c.597C>G NP_001092138.1:p.Arg199=
NM_001320813.1:c.597C>G NP_001307742.1:p.Arg199=
NM_001320814.1:c.627C>G NP_001307743.1:p.Arg209=
XM_005270128.3:c.648C>G XP_005270185.1:p.Arg216=
XM_017016608.1:c.597C>G XP_016872097.1:p.Arg199=
NM_001098668.4:c.597C>G MANE Select NP_001092138.1:p.Arg199=
NM_001320813.2:c.597C>G NP_001307742.1:p.Arg199=