Canonical Allele Identifier: CA5574034

Gene: SFTPA2

Linked Data

• dbSNP Id: rs748397712
• ExAC: 10:81317236 C / T
• gnomAD v2: 10-81317236-C-T
• gnomAD v3: 10-79557480-C-T
• gnomAD v4: 10-79557480-C-T
• MyVariant Identifiers: chr10:g.81317236C>T (hg19) ; chr10:g.79557480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557480C>T , CM000672.2:g.79557480C>T	GRCh38
NC_000010.10:g.81317236C>T , CM000672.1:g.81317236C>T	GRCh37
NG_013046.1:g.7928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.476G>A MANE Select	ENSP00000361400.2:p.Gly159Asp
ENST00000372325.6:c.476G>A	ENSP00000361400.2:p.Gly159Asp
ENST00000372327.9:c.476G>A	ENSP00000361402.5:p.Gly159Asp
NM_001098668.2:c.476G>A	NP_001092138.1:p.Gly159Asp
XM_005270128.2:c.527G>A	XP_005270185.1:p.Gly176Asp
XM_005270131.3:c.476G>A	XP_005270188.1:p.Gly159Asp
XM_005270132.3:c.476G>A	XP_005270189.1:p.Gly159Asp
XM_011540124.1:c.476G>A	XP_011538426.1:p.Gly159Asp
XM_011540125.1:c.476G>A	XP_011538427.1:p.Gly159Asp
NM_001098668.3:c.476G>A	NP_001092138.1:p.Gly159Asp
NM_001320813.1:c.476G>A	NP_001307742.1:p.Gly159Asp
NM_001320814.1:c.506G>A	NP_001307743.1:p.Gly169Asp
XM_005270128.3:c.527G>A	XP_005270185.1:p.Gly176Asp
XM_017016608.1:c.476G>A	XP_016872097.1:p.Gly159Asp
NM_001098668.4:c.476G>A MANE Select	NP_001092138.1:p.Gly159Asp
NM_001320813.2:c.476G>A	NP_001307742.1:p.Gly159Asp