Canonical Allele Identifier: CA2609869149

Gene: SFTPA2

Linked Data

• gnomAD v4: 10-79557499-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557499_79557500insA , CM000672.2:g.79557499_79557500insA	GRCh38
NC_000010.10:g.81317255_81317256insA , CM000672.1:g.81317255_81317256insA	GRCh37
NG_013046.1:g.7908_7909insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.456_457insT MANE Select	ENSP00000361400.2:p.Glu153Ter
ENST00000372325.6:c.456_457insT	ENSP00000361400.2:p.Glu153Ter
ENST00000372327.9:c.456_457insT	ENSP00000361402.5:p.Glu153Ter
ENST00000417041.1:c.456_457insT	ENSP00000397375.1:p.Glu153Ter
NM_001098668.2:c.456_457insT	NP_001092138.1:p.Glu153Ter
XM_005270128.2:c.507_508insT	XP_005270185.1:p.Glu170Ter
XM_005270131.3:c.456_457insT	XP_005270188.1:p.Glu153Ter
XM_005270132.3:c.456_457insT	XP_005270189.1:p.Glu153Ter
XM_011540124.1:c.456_457insT	XP_011538426.1:p.Glu153Ter
XM_011540125.1:c.456_457insT	XP_011538427.1:p.Glu153Ter
NM_001098668.3:c.456_457insT	NP_001092138.1:p.Glu153Ter
NM_001320813.1:c.456_457insT	NP_001307742.1:p.Glu153Ter
NM_001320814.1:c.486_487insT	NP_001307743.1:p.Glu163Ter
XM_005270128.3:c.507_508insT	XP_005270185.1:p.Glu170Ter
XM_017016608.1:c.456_457insT	XP_016872097.1:p.Glu153Ter
NM_001098668.4:c.456_457insT MANE Select	NP_001092138.1:p.Glu153Ter
NM_001320813.2:c.456_457insT	NP_001307742.1:p.Glu153Ter