Canonical Allele Identifier: CA2609869148

Gene: SFTPA2

Linked Data

• gnomAD v4: 10-79559417-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79559418del , CM000672.2:g.79559418del	GRCh38
NC_000010.10:g.81319174del , CM000672.1:g.81319174del	GRCh37
NG_013046.1:g.5990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.66del MANE Select	ENSP00000361400.2:p.Lys23ArgfsTer?
ENST00000640627.1:c.111del	ENSP00000492537.1:p.Lys38ArgfsTer?
ENST00000372325.6:c.66del	ENSP00000361400.2:p.Lys23ArgfsTer?
ENST00000372327.9:c.66del	ENSP00000361402.5:p.Lys23ArgfsTer?
ENST00000417041.1:c.66del	ENSP00000397375.1:p.Lys23ArgfsTer?
ENST00000492049.1:c.66del	ENSP00000473275.1:p.Lys23ArgfsTer?
NM_001098668.2:c.66del	NP_001092138.1:p.Lys23ArgfsTer?
XM_005270128.2:c.117del	XP_005270185.1:p.Lys40ArgfsTer?
XM_005270131.3:c.66del	XP_005270188.1:p.Lys23ArgfsTer?
XM_005270132.3:c.66del	XP_005270189.1:p.Lys23ArgfsTer?
XM_011540124.1:c.66del	XP_011538426.1:p.Lys23ArgfsTer?
XM_011540125.1:c.66del	XP_011538427.1:p.Lys23ArgfsTer?
NM_001098668.3:c.66del	NP_001092138.1:p.Lys23ArgfsTer?
NM_001320813.1:c.66del	NP_001307742.1:p.Lys23ArgfsTer?
NM_001320814.1:c.96del	NP_001307743.1:p.Lys33ArgfsTer?
XM_005270128.3:c.117del	XP_005270185.1:p.Lys40ArgfsTer?
XM_017016608.1:c.66del	XP_016872097.1:p.Lys23ArgfsTer?
NM_001098668.4:c.66del MANE Select	NP_001092138.1:p.Lys23ArgfsTer?
NM_001320813.2:c.66del	NP_001307742.1:p.Lys23ArgfsTer?