Canonical Allele Identifier: CA377352744

Gene: SFTPA2

Linked Data

• ClinVar Variation Id: 1704398
• ClinVar RCV Id: RCV002282785
• MyVariant Identifiers: chr10:g.81317036C>T (hg19) ; chr10:g.79557280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557280C>T , CM000672.2:g.79557280C>T	GRCh38
NC_000010.10:g.81317036C>T , CM000672.1:g.81317036C>T	GRCh37
NG_013046.1:g.8128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.676G>A MANE Select	ENSP00000361400.2:p.Glu226Lys
ENST00000372325.6:c.676G>A	ENSP00000361400.2:p.Glu226Lys
ENST00000372327.9:c.676G>A	ENSP00000361402.5:p.Glu226Lys
NM_001098668.2:c.676G>A	NP_001092138.1:p.Glu226Lys
XM_005270128.2:c.727G>A	XP_005270185.1:p.Glu243Lys
XM_005270131.3:c.676G>A	XP_005270188.1:p.Glu226Lys
XM_005270132.3:c.676G>A	XP_005270189.1:p.Glu226Lys
XM_011540124.1:c.676G>A	XP_011538426.1:p.Glu226Lys
XM_011540125.1:c.676G>A	XP_011538427.1:p.Glu226Lys
NM_001098668.3:c.676G>A	NP_001092138.1:p.Glu226Lys
NM_001320813.1:c.676G>A	NP_001307742.1:p.Glu226Lys
NM_001320814.1:c.706G>A	NP_001307743.1:p.Glu236Lys
XM_005270128.3:c.727G>A	XP_005270185.1:p.Glu243Lys
XM_017016608.1:c.676G>A	XP_016872097.1:p.Glu226Lys
NM_001098668.4:c.676G>A MANE Select	NP_001092138.1:p.Glu226Lys
NM_001320813.2:c.676G>A	NP_001307742.1:p.Glu226Lys