Canonical Allele Identifier: CA2609869138

Gene: SFTPA2

Linked Data

• gnomAD v4: 10-79557265-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557266del , CM000672.2:g.79557266del	GRCh38
NC_000010.10:g.81317022del , CM000672.1:g.81317022del	GRCh37
NG_013046.1:g.8142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.690del MANE Select	ENSP00000361400.2:p.Asp230GlufsTer14
ENST00000372325.6:c.690del	ENSP00000361400.2:p.Asp230GlufsTer14
ENST00000372327.9:c.690del	ENSP00000361402.5:p.Asp230GlufsTer14
NM_001098668.2:c.690del	NP_001092138.1:p.Asp230GlufsTer14
XM_005270128.2:c.741del	XP_005270185.1:p.Asp247GlufsTer14
XM_005270131.3:c.690del	XP_005270188.1:p.Asp230GlufsTer14
XM_005270132.3:c.690del	XP_005270189.1:p.Asp230GlufsTer14
XM_011540124.1:c.690del	XP_011538426.1:p.Asp230GlufsTer14
XM_011540125.1:c.690del	XP_011538427.1:p.Asp230GlufsTer14
NM_001098668.3:c.690del	NP_001092138.1:p.Asp230GlufsTer14
NM_001320813.1:c.690del	NP_001307742.1:p.Asp230GlufsTer14
NM_001320814.1:c.720del	NP_001307743.1:p.Asp240GlufsTer14
XM_005270128.3:c.741del	XP_005270185.1:p.Asp247GlufsTer14
XM_017016608.1:c.690del	XP_016872097.1:p.Asp230GlufsTer14
NM_001098668.4:c.690del MANE Select	NP_001092138.1:p.Asp230GlufsTer14
NM_001320813.2:c.690del	NP_001307742.1:p.Asp230GlufsTer14