Canonical Allele Identifier: CA2740093041

Gene: SFTPA2

Linked Data

• ClinVar Variation Id: 3027274
• ClinVar RCV Id: RCV003887667

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557236_79557238del , CM000672.2:g.79557236_79557238del	GRCh38
NC_000010.10:g.81316992_81316994del , CM000672.1:g.81316992_81316994del	GRCh37
NG_013046.1:g.8171_8173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.719_721del MANE Select	ENSP00000361400.2:p.Tyr240del
ENST00000372325.6:c.719_721del	ENSP00000361400.2:p.Tyr240del
ENST00000372327.9:c.719_721del	ENSP00000361402.5:p.Tyr240del
NM_001098668.2:c.719_721del	NP_001092138.1:p.Tyr240del
XM_005270128.2:c.770_772del	XP_005270185.1:p.Tyr257del
XM_005270131.3:c.719_721del	XP_005270188.1:p.Tyr240del
XM_005270132.3:c.719_721del	XP_005270189.1:p.Tyr240del
XM_011540124.1:c.719_721del	XP_011538426.1:p.Tyr240del
XM_011540125.1:c.719_721del	XP_011538427.1:p.Tyr240del
NM_001098668.3:c.719_721del	NP_001092138.1:p.Tyr240del
NM_001320813.1:c.719_721del	NP_001307742.1:p.Tyr240del
NM_001320814.1:c.749_751del	NP_001307743.1:p.Tyr250del
XM_005270128.3:c.770_772del	XP_005270185.1:p.Tyr257del
XM_017016608.1:c.719_721del	XP_016872097.1:p.Tyr240del
NM_001098668.4:c.719_721del MANE Select	NP_001092138.1:p.Tyr240del
NM_001320813.2:c.719_721del	NP_001307742.1:p.Tyr240del