Canonical Allele Identifier: CA377352589

Gene: SFTPA2

Linked Data

• gnomAD v4: 10-79557211-A-C
• MyVariant Identifiers: chr10:g.81316967A>C (hg19) ; chr10:g.79557211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557211A>C , CM000672.2:g.79557211A>C	GRCh38
NC_000010.10:g.81316967A>C , CM000672.1:g.81316967A>C	GRCh37
NG_013046.1:g.8197T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372325.7:c.745T>G MANE Select	ENSP00000361400.2:p.Ter249Gly
ENST00000372325.6:c.745T>G	ENSP00000361400.2:p.Ter249Gly
ENST00000372327.9:c.745T>G	ENSP00000361402.5:p.Ter249Gly
NM_001098668.2:c.745T>G	NP_001092138.1:p.Ter249Gly
XM_005270128.2:c.796T>G	XP_005270185.1:p.Ter266Gly
XM_005270131.3:c.745T>G	XP_005270188.1:p.Ter249Gly
XM_005270132.3:c.745T>G	XP_005270189.1:p.Ter249Gly
XM_011540124.1:c.745T>G	XP_011538426.1:p.Ter249Gly
XM_011540125.1:c.745T>G	XP_011538427.1:p.Ter249Gly
NM_001098668.3:c.745T>G	NP_001092138.1:p.Ter249Gly
NM_001320813.1:c.745T>G	NP_001307742.1:p.Ter249Gly
NM_001320814.1:c.775T>G	NP_001307743.1:p.Ter259Gly
XM_005270128.3:c.796T>G	XP_005270185.1:p.Ter266Gly
XM_017016608.1:c.745T>G	XP_016872097.1:p.Ter249Gly
NM_001098668.4:c.745T>G MANE Select	NP_001092138.1:p.Ter249Gly
NM_001320813.2:c.745T>G	NP_001307742.1:p.Ter249Gly