Canonical Allele Identifier: CA5573988

Gene: SFTPA2

Linked Data

• dbSNP Id: rs775665530
• ExAC: 10:81317057 GACCTGCAGGCTCCCCTCGGT / G
• gnomAD v2: 10-81317057-GACCTGCAGGCTCCCCTCGGT-G
• gnomAD v3: 10-79557301-GACCTGCAGGCTCCCCTCGGT-G
• gnomAD v4: 10-79557301-GACCTGCAGGCTCCCCTCGGT-G
• MyVariant Identifiers: chr10:g.81317058_81317077del (hg19) ; chr10:g.79557302_79557321del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557305_79557324del , CM000672.2:g.79557305_79557324del	GRCh38
NC_000010.10:g.81317061_81317080del , CM000672.1:g.81317061_81317080del	GRCh37
NG_013046.1:g.8087_8106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.635_654del MANE Select	ENSP00000361400.2:p.Tyr212SerfsTer17
ENST00000372325.6:c.635_654del	ENSP00000361400.2:p.Tyr212SerfsTer17
ENST00000372327.9:c.635_654del	ENSP00000361402.5:p.Tyr212SerfsTer17
NM_001098668.2:c.635_654del	NP_001092138.1:p.Tyr212SerfsTer17
XM_005270128.2:c.686_705del	XP_005270185.1:p.Tyr229SerfsTer17
XM_005270131.3:c.635_654del	XP_005270188.1:p.Tyr212SerfsTer17
XM_005270132.3:c.635_654del	XP_005270189.1:p.Tyr212SerfsTer17
XM_011540124.1:c.635_654del	XP_011538426.1:p.Tyr212SerfsTer17
XM_011540125.1:c.635_654del	XP_011538427.1:p.Tyr212SerfsTer17
NM_001098668.3:c.635_654del	NP_001092138.1:p.Tyr212SerfsTer17
NM_001320813.1:c.635_654del	NP_001307742.1:p.Tyr212SerfsTer17
NM_001320814.1:c.665_684del	NP_001307743.1:p.Tyr222SerfsTer17
XM_005270128.3:c.686_705del	XP_005270185.1:p.Tyr229SerfsTer17
XM_017016608.1:c.635_654del	XP_016872097.1:p.Tyr212SerfsTer17
NM_001098668.4:c.635_654del MANE Select	NP_001092138.1:p.Tyr212SerfsTer17
NM_001320813.2:c.635_654del	NP_001307742.1:p.Tyr212SerfsTer17