Canonical Allele Identifier: CA5574217

Gene: SFTPA2

Linked Data

• dbSNP Id: rs750214457
• ExAC: 10:81319171 CT / C
• gnomAD v2: 10-81319171-CT-C
• gnomAD v3: 10-79559415-CT-C
• gnomAD v4: 10-79559415-CT-C
• MyVariant Identifiers: chr10:g.81319172del (hg19) ; chr10:g.79559416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79559417del , CM000672.2:g.79559417del	GRCh38
NC_000010.10:g.81319173del , CM000672.1:g.81319173del	GRCh37
NG_013046.1:g.5992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.68del MANE Select	ENSP00000361400.2:p.Lys23ArgfsTer?
ENST00000640627.1:c.113del	ENSP00000492537.1:p.Lys38ArgfsTer?
ENST00000372325.6:c.68del	ENSP00000361400.2:p.Lys23ArgfsTer?
ENST00000372327.9:c.68del	ENSP00000361402.5:p.Lys23ArgfsTer?
ENST00000417041.1:c.68del	ENSP00000397375.1:p.Lys23ArgfsTer?
ENST00000492049.1:c.68del	ENSP00000473275.1:p.Lys23ArgfsTer?
NM_001098668.2:c.68del	NP_001092138.1:p.Lys23ArgfsTer?
XM_005270128.2:c.119del	XP_005270185.1:p.Lys40ArgfsTer?
XM_005270131.3:c.68del	XP_005270188.1:p.Lys23ArgfsTer?
XM_005270132.3:c.68del	XP_005270189.1:p.Lys23ArgfsTer?
XM_011540124.1:c.68del	XP_011538426.1:p.Lys23ArgfsTer?
XM_011540125.1:c.68del	XP_011538427.1:p.Lys23ArgfsTer?
NM_001098668.3:c.68del	NP_001092138.1:p.Lys23ArgfsTer?
NM_001320813.1:c.68del	NP_001307742.1:p.Lys23ArgfsTer?
NM_001320814.1:c.98del	NP_001307743.1:p.Lys33ArgfsTer?
XM_005270128.3:c.119del	XP_005270185.1:p.Lys40ArgfsTer?
XM_017016608.1:c.68del	XP_016872097.1:p.Lys23ArgfsTer?
NM_001098668.4:c.68del MANE Select	NP_001092138.1:p.Lys23ArgfsTer?
NM_001320813.2:c.68del	NP_001307742.1:p.Lys23ArgfsTer?