Canonical Allele Identifier: CA377352611

Gene: SFTPA2

Linked Data

• gnomAD v4: 10-79557220-A-G
• MyVariant Identifiers: chr10:g.81316976A>G (hg19) ; chr10:g.79557220A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557220A>G , CM000672.2:g.79557220A>G	GRCh38
NC_000010.10:g.81316976A>G , CM000672.1:g.81316976A>G	GRCh37
NG_013046.1:g.8188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.736T>C MANE Select	ENSP00000361400.2:p.Cys246Arg
ENST00000372325.6:c.736T>C	ENSP00000361400.2:p.Cys246Arg
ENST00000372327.9:c.736T>C	ENSP00000361402.5:p.Cys246Arg
NM_001098668.2:c.736T>C	NP_001092138.1:p.Cys246Arg
XM_005270128.2:c.787T>C	XP_005270185.1:p.Cys263Arg
XM_005270131.3:c.736T>C	XP_005270188.1:p.Cys246Arg
XM_005270132.3:c.736T>C	XP_005270189.1:p.Cys246Arg
XM_011540124.1:c.736T>C	XP_011538426.1:p.Cys246Arg
XM_011540125.1:c.736T>C	XP_011538427.1:p.Cys246Arg
NM_001098668.3:c.736T>C	NP_001092138.1:p.Cys246Arg
NM_001320813.1:c.736T>C	NP_001307742.1:p.Cys246Arg
NM_001320814.1:c.766T>C	NP_001307743.1:p.Cys256Arg
XM_005270128.3:c.787T>C	XP_005270185.1:p.Cys263Arg
XM_017016608.1:c.736T>C	XP_016872097.1:p.Cys246Arg
NM_001098668.4:c.736T>C MANE Select	NP_001092138.1:p.Cys246Arg
NM_001320813.2:c.736T>C	NP_001307742.1:p.Cys246Arg