Canonical Allele Identifier: CA256736
Gene: SFTPA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13199
dbSNP Id: rs121917737

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79557264C>A , CM000672.2:g.79557264C>A GRCh38
NC_000010.10:g.81317020C>A , CM000672.1:g.81317020C>A GRCh37
NG_013046.1:g.8144G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372325.7:c.692G>T MANE Select ENSP00000361400.2:p.Gly231Val
ENST00000372325.6:c.692G>T ENSP00000361400.2:p.Gly231Val
ENST00000372327.9:c.692G>T ENSP00000361402.5:p.Gly231Val
NM_001098668.2:c.692G>T NP_001092138.1:p.Gly231Val
XM_005270128.2:c.743G>T XP_005270185.1:p.Gly248Val
XM_005270131.3:c.692G>T XP_005270188.1:p.Gly231Val
XM_005270132.3:c.692G>T XP_005270189.1:p.Gly231Val
XM_011540124.1:c.692G>T XP_011538426.1:p.Gly231Val
XM_011540125.1:c.692G>T XP_011538427.1:p.Gly231Val
NM_001098668.3:c.692G>T NP_001092138.1:p.Gly231Val
NM_001320813.1:c.692G>T NP_001307742.1:p.Gly231Val
NM_001320814.1:c.722G>T NP_001307743.1:p.Gly241Val
XM_005270128.3:c.743G>T XP_005270185.1:p.Gly248Val
XM_017016608.1:c.692G>T XP_016872097.1:p.Gly231Val
NM_001098668.4:c.692G>T MANE Select NP_001092138.1:p.Gly231Val
NM_001320813.2:c.692G>T NP_001307742.1:p.Gly231Val