Canonical Allele Identifier: CA377353086

Gene: SFTPA2

Linked Data

• ClinVar Variation Id: 1322020
• ClinVar RCV Id: RCV001780092
• dbSNP Id: rs2132046635
• MyVariant Identifiers: chr10:g.81317200T>A (hg19) ; chr10:g.79557444T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557444T>A , CM000672.2:g.79557444T>A	GRCh38
NC_000010.10:g.81317200T>A , CM000672.1:g.81317200T>A	GRCh37
NG_013046.1:g.7964A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.512A>T MANE Select	ENSP00000361400.2:p.Asn171Ile
ENST00000372325.6:c.512A>T	ENSP00000361400.2:p.Asn171Ile
ENST00000372327.9:c.512A>T	ENSP00000361402.5:p.Asn171Ile
NM_001098668.2:c.512A>T	NP_001092138.1:p.Asn171Ile
XM_005270128.2:c.563A>T	XP_005270185.1:p.Asn188Ile
XM_005270131.3:c.512A>T	XP_005270188.1:p.Asn171Ile
XM_005270132.3:c.512A>T	XP_005270189.1:p.Asn171Ile
XM_011540124.1:c.512A>T	XP_011538426.1:p.Asn171Ile
XM_011540125.1:c.512A>T	XP_011538427.1:p.Asn171Ile
NM_001098668.3:c.512A>T	NP_001092138.1:p.Asn171Ile
NM_001320813.1:c.512A>T	NP_001307742.1:p.Asn171Ile
NM_001320814.1:c.542A>T	NP_001307743.1:p.Asn181Ile
XM_005270128.3:c.563A>T	XP_005270185.1:p.Asn188Ile
XM_017016608.1:c.512A>T	XP_016872097.1:p.Asn171Ile
NM_001098668.4:c.512A>T MANE Select	NP_001092138.1:p.Asn171Ile
NM_001320813.2:c.512A>T	NP_001307742.1:p.Asn171Ile