Canonical Allele Identifier: CA2544302684

Gene: SFTPA2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557615_79557616insCGTGGTACGGCGGTAGCCGGTGGTCAGAACCGCCTCCAGCTTGTGCACGGGGCCGGCGAGGATATCGCCGAG , CM000672.2:g.79557615_79557616insCGTGGTACGGCGGTAGCCGGTGGTCAGAACCGCCTCCAGCTTGTGCACGGGGCCGGCGAGGATATCGCCGAG	GRCh38
NC_000010.10:g.81317371_81317372insCGTGGTACGGCGGTAGCCGGTGGTCAGAACCGCCTCCAGCTTGTGCACGGGGCCGGCGAGGATATCGCCGAG , CM000672.1:g.81317371_81317372insCGTGGTACGGCGGTAGCCGGTGGTCAGAACCGCCTCCAGCTTGTGCACGGGGCCGGCGAGGATATCGCCGAG	GRCh37
NG_013046.1:g.7792_7793insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG MANE Select	ENSP00000361400.2:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCG...
ENST00000372325.6:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	ENSP00000361400.2:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCG...
ENST00000372327.9:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	ENSP00000361402.5:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCG...
ENST00000417041.1:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	ENSP00000397375.1:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCG...
NM_001098668.2:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	NP_001092138.1:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
XM_005270128.2:c.422-31_422-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	XP_005270185.1:n.422-31_422-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
XM_005270131.3:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	XP_005270188.1:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
XM_005270132.3:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	XP_005270189.1:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
XM_011540124.1:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	XP_011538426.1:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
XM_011540125.1:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	XP_011538427.1:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
NM_001098668.3:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	NP_001092138.1:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
NM_001320813.1:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	NP_001307742.1:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
NM_001320814.1:c.401-31_401-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	NP_001307743.1:n.401-31_401-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
XM_005270128.3:c.422-31_422-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	XP_005270185.1:n.422-31_422-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
XM_017016608.1:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	XP_016872097.1:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
NM_001098668.4:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG MANE Select	NP_001092138.1:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...
NM_001320813.2:c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG	NP_001307742.1:n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGC...