Canonical Allele Identifier: CA377353386

Gene: SFTPA2

Linked Data

• ClinVar Variation Id: 3160953
• ClinVar RCV Id: RCV004455839
• gnomAD v4: 10-79557585-G-A
• MyVariant Identifiers: chr10:g.81317341G>A (hg19) ; chr10:g.79557585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557585G>A , CM000672.2:g.79557585G>A	GRCh38
NC_000010.10:g.81317341G>A , CM000672.1:g.81317341G>A	GRCh37
NG_013046.1:g.7823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.371C>T MANE Select	ENSP00000361400.2:p.Ala124Val
ENST00000372325.6:c.371C>T	ENSP00000361400.2:p.Ala124Val
ENST00000372327.9:c.371C>T	ENSP00000361402.5:p.Ala124Val
ENST00000417041.1:c.371C>T	ENSP00000397375.1:p.Ala124Val
NM_001098668.2:c.371C>T	NP_001092138.1:p.Ala124Val
XM_005270128.2:c.422C>T	XP_005270185.1:p.Ala141Val
XM_005270131.3:c.371C>T	XP_005270188.1:p.Ala124Val
XM_005270132.3:c.371C>T	XP_005270189.1:p.Ala124Val
XM_011540124.1:c.371C>T	XP_011538426.1:p.Ala124Val
XM_011540125.1:c.371C>T	XP_011538427.1:p.Ala124Val
NM_001098668.3:c.371C>T	NP_001092138.1:p.Ala124Val
NM_001320813.1:c.371C>T	NP_001307742.1:p.Ala124Val
NM_001320814.1:c.401C>T	NP_001307743.1:p.Ala134Val
XM_005270128.3:c.422C>T	XP_005270185.1:p.Ala141Val
XM_017016608.1:c.371C>T	XP_016872097.1:p.Ala124Val
NM_001098668.4:c.371C>T MANE Select	NP_001092138.1:p.Ala124Val
NM_001320813.2:c.371C>T	NP_001307742.1:p.Ala124Val