Canonical Allele Identifier: CA377353113

Gene: SFTPA2

Linked Data

• dbSNP Id: rs1439181730
• gnomAD v2: 10-81317211-A-T
• gnomAD v4: 10-79557455-A-T
• MyVariant Identifiers: chr10:g.81317211A>T (hg19) ; chr10:g.79557455A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557455A>T , CM000672.2:g.79557455A>T	GRCh38
NC_000010.10:g.81317211A>T , CM000672.1:g.81317211A>T	GRCh37
NG_013046.1:g.7953T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.501T>A MANE Select	ENSP00000361400.2:p.Asn167Lys
ENST00000372325.6:c.501T>A	ENSP00000361400.2:p.Asn167Lys
ENST00000372327.9:c.501T>A	ENSP00000361402.5:p.Asn167Lys
NM_001098668.2:c.501T>A	NP_001092138.1:p.Asn167Lys
XM_005270128.2:c.552T>A	XP_005270185.1:p.Asn184Lys
XM_005270131.3:c.501T>A	XP_005270188.1:p.Asn167Lys
XM_005270132.3:c.501T>A	XP_005270189.1:p.Asn167Lys
XM_011540124.1:c.501T>A	XP_011538426.1:p.Asn167Lys
XM_011540125.1:c.501T>A	XP_011538427.1:p.Asn167Lys
NM_001098668.3:c.501T>A	NP_001092138.1:p.Asn167Lys
NM_001320813.1:c.501T>A	NP_001307742.1:p.Asn167Lys
NM_001320814.1:c.531T>A	NP_001307743.1:p.Asn177Lys
XM_005270128.3:c.552T>A	XP_005270185.1:p.Asn184Lys
XM_017016608.1:c.501T>A	XP_016872097.1:p.Asn167Lys
NM_001098668.4:c.501T>A MANE Select	NP_001092138.1:p.Asn167Lys
NM_001320813.2:c.501T>A	NP_001307742.1:p.Asn167Lys