Canonical Allele Identifier: CA377352689

Gene: SFTPA2

Linked Data

• MyVariant Identifiers: chr10:g.81317013C>G (hg19) ; chr10:g.79557257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557257C>G , CM000672.2:g.79557257C>G	GRCh38
NC_000010.10:g.81317013C>G , CM000672.1:g.81317013C>G	GRCh37
NG_013046.1:g.8151G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.699G>C MANE Select	ENSP00000361400.2:p.Trp233Cys
ENST00000372325.6:c.699G>C	ENSP00000361400.2:p.Trp233Cys
ENST00000372327.9:c.699G>C	ENSP00000361402.5:p.Trp233Cys
NM_001098668.2:c.699G>C	NP_001092138.1:p.Trp233Cys
XM_005270128.2:c.750G>C	XP_005270185.1:p.Trp250Cys
XM_005270131.3:c.699G>C	XP_005270188.1:p.Trp233Cys
XM_005270132.3:c.699G>C	XP_005270189.1:p.Trp233Cys
XM_011540124.1:c.699G>C	XP_011538426.1:p.Trp233Cys
XM_011540125.1:c.699G>C	XP_011538427.1:p.Trp233Cys
NM_001098668.3:c.699G>C	NP_001092138.1:p.Trp233Cys
NM_001320813.1:c.699G>C	NP_001307742.1:p.Trp233Cys
NM_001320814.1:c.729G>C	NP_001307743.1:p.Trp243Cys
XM_005270128.3:c.750G>C	XP_005270185.1:p.Trp250Cys
XM_017016608.1:c.699G>C	XP_016872097.1:p.Trp233Cys
NM_001098668.4:c.699G>C MANE Select	NP_001092138.1:p.Trp233Cys
NM_001320813.2:c.699G>C	NP_001307742.1:p.Trp233Cys