Canonical Allele Identifier: CA2609869150

Gene: SFTPA2

Linked Data

• gnomAD v4: 10-79557501-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557502del , CM000672.2:g.79557502del	GRCh38
NC_000010.10:g.81317258del , CM000672.1:g.81317258del	GRCh37
NG_013046.1:g.7906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.454del MANE Select	ENSP00000361400.2:p.Gln152ArgfsTer27
ENST00000372325.6:c.454del	ENSP00000361400.2:p.Gln152ArgfsTer27
ENST00000372327.9:c.454del	ENSP00000361402.5:p.Gln152ArgfsTer27
ENST00000417041.1:c.454del	ENSP00000397375.1:p.Gln152ArgfsTer?
NM_001098668.2:c.454del	NP_001092138.1:p.Gln152ArgfsTer27
XM_005270128.2:c.505del	XP_005270185.1:p.Gln169ArgfsTer27
XM_005270131.3:c.454del	XP_005270188.1:p.Gln152ArgfsTer27
XM_005270132.3:c.454del	XP_005270189.1:p.Gln152ArgfsTer27
XM_011540124.1:c.454del	XP_011538426.1:p.Gln152ArgfsTer27
XM_011540125.1:c.454del	XP_011538427.1:p.Gln152ArgfsTer27
NM_001098668.3:c.454del	NP_001092138.1:p.Gln152ArgfsTer27
NM_001320813.1:c.454del	NP_001307742.1:p.Gln152ArgfsTer27
NM_001320814.1:c.484del	NP_001307743.1:p.Gln162ArgfsTer27
XM_005270128.3:c.505del	XP_005270185.1:p.Gln169ArgfsTer27
XM_017016608.1:c.454del	XP_016872097.1:p.Gln152ArgfsTer27
NM_001098668.4:c.454del MANE Select	NP_001092138.1:p.Gln152ArgfsTer27
NM_001320813.2:c.454del	NP_001307742.1:p.Gln152ArgfsTer27