Canonical Allele Identifier: CA377352618

Gene: SFTPA2

Linked Data

• ClinVar Variation Id: 2324613
• ClinVar RCV Id: RCV002911669
• gnomAD v4: 10-79557223-T-C
• MyVariant Identifiers: chr10:g.81316979T>C (hg19) ; chr10:g.79557223T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557223T>C , CM000672.2:g.79557223T>C	GRCh38
NC_000010.10:g.81316979T>C , CM000672.1:g.81316979T>C	GRCh37
NG_013046.1:g.8185A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.733A>G MANE Select	ENSP00000361400.2:p.Ile245Val
ENST00000372325.6:c.733A>G	ENSP00000361400.2:p.Ile245Val
ENST00000372327.9:c.733A>G	ENSP00000361402.5:p.Ile245Val
NM_001098668.2:c.733A>G	NP_001092138.1:p.Ile245Val
XM_005270128.2:c.784A>G	XP_005270185.1:p.Ile262Val
XM_005270131.3:c.733A>G	XP_005270188.1:p.Ile245Val
XM_005270132.3:c.733A>G	XP_005270189.1:p.Ile245Val
XM_011540124.1:c.733A>G	XP_011538426.1:p.Ile245Val
XM_011540125.1:c.733A>G	XP_011538427.1:p.Ile245Val
NM_001098668.3:c.733A>G	NP_001092138.1:p.Ile245Val
NM_001320813.1:c.733A>G	NP_001307742.1:p.Ile245Val
NM_001320814.1:c.763A>G	NP_001307743.1:p.Ile255Val
XM_005270128.3:c.784A>G	XP_005270185.1:p.Ile262Val
XM_017016608.1:c.733A>G	XP_016872097.1:p.Ile245Val
NM_001098668.4:c.733A>G MANE Select	NP_001092138.1:p.Ile245Val
NM_001320813.2:c.733A>G	NP_001307742.1:p.Ile245Val