Canonical Allele Identifier: CA256736

Gene: SFTPA2

Linked Data

• ClinVar Variation Id: 13199
• ClinVar RCV Id: RCV000014086 ; RCV002509155
• dbSNP Id: rs121917737
• MyVariant Identifiers: chr10:g.81317020C>A (hg19) ; chr10:g.79557264C>A (hg38)
• PubMed: PMID:19100526

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557264C>A , CM000672.2:g.79557264C>A	GRCh38
NC_000010.10:g.81317020C>A , CM000672.1:g.81317020C>A	GRCh37
NG_013046.1:g.8144G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.692G>T MANE Select	ENSP00000361400.2:p.Gly231Val
ENST00000372325.6:c.692G>T	ENSP00000361400.2:p.Gly231Val
ENST00000372327.9:c.692G>T	ENSP00000361402.5:p.Gly231Val
NM_001098668.2:c.692G>T	NP_001092138.1:p.Gly231Val
XM_005270128.2:c.743G>T	XP_005270185.1:p.Gly248Val
XM_005270131.3:c.692G>T	XP_005270188.1:p.Gly231Val
XM_005270132.3:c.692G>T	XP_005270189.1:p.Gly231Val
XM_011540124.1:c.692G>T	XP_011538426.1:p.Gly231Val
XM_011540125.1:c.692G>T	XP_011538427.1:p.Gly231Val
NM_001098668.3:c.692G>T	NP_001092138.1:p.Gly231Val
NM_001320813.1:c.692G>T	NP_001307742.1:p.Gly231Val
NM_001320814.1:c.722G>T	NP_001307743.1:p.Gly241Val
XM_005270128.3:c.743G>T	XP_005270185.1:p.Gly248Val
XM_017016608.1:c.692G>T	XP_016872097.1:p.Gly231Val
NM_001098668.4:c.692G>T MANE Select	NP_001092138.1:p.Gly231Val
NM_001320813.2:c.692G>T	NP_001307742.1:p.Gly231Val