Canonical Allele Identifier: CA2788683859

Gene: SFTPA2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557310_79557311insA , CM000672.2:g.79557310_79557311insA	GRCh38
NC_000010.10:g.81317066_81317067insA , CM000672.1:g.81317066_81317067insA	GRCh37
NG_013046.1:g.8097_8098insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.645_646insT MANE Select	ENSP00000361400.2:p.Pro216SerfsTer20
ENST00000372325.6:c.645_646insT	ENSP00000361400.2:p.Pro216SerfsTer20
ENST00000372327.9:c.645_646insT	ENSP00000361402.5:p.Pro216SerfsTer20
NM_001098668.2:c.645_646insT	NP_001092138.1:p.Pro216SerfsTer20
XM_005270128.2:c.696_697insT	XP_005270185.1:p.Pro233SerfsTer20
XM_005270131.3:c.645_646insT	XP_005270188.1:p.Pro216SerfsTer20
XM_005270132.3:c.645_646insT	XP_005270189.1:p.Pro216SerfsTer20
XM_011540124.1:c.645_646insT	XP_011538426.1:p.Pro216SerfsTer20
XM_011540125.1:c.645_646insT	XP_011538427.1:p.Pro216SerfsTer20
NM_001098668.3:c.645_646insT	NP_001092138.1:p.Pro216SerfsTer20
NM_001320813.1:c.645_646insT	NP_001307742.1:p.Pro216SerfsTer20
NM_001320814.1:c.675_676insT	NP_001307743.1:p.Pro226SerfsTer20
XM_005270128.3:c.696_697insT	XP_005270185.1:p.Pro233SerfsTer20
XM_017016608.1:c.645_646insT	XP_016872097.1:p.Pro216SerfsTer20
NM_001098668.4:c.645_646insT MANE Select	NP_001092138.1:p.Pro216SerfsTer20
NM_001320813.2:c.645_646insT	NP_001307742.1:p.Pro216SerfsTer20