Canonical Allele Identifier: CA5573967

Gene: SFTPA2

Linked Data

• dbSNP Id: rs748350578
• ExAC: 10:81316942 C / A
• gnomAD v2: 10-81316942-C-A
• gnomAD v3: 10-79557186-C-A
• gnomAD v4: 10-79557186-C-A
• MyVariant Identifiers: chr10:g.81316942C>A (hg19) ; chr10:g.79557186C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557186C>A , CM000672.2:g.79557186C>A	GRCh38
NC_000010.10:g.81316942C>A , CM000672.1:g.81316942C>A	GRCh37
NG_013046.1:g.8222G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372325.7:c.*23G>T MANE Select	ENSP00000361400.2:n.*23G>T
ENST00000372325.6:c.*23G>T	ENSP00000361400.2:n.*23G>T
NM_001098668.2:c.*23G>T	NP_001092138.1:n.*23G>T
XM_005270128.2:c.*23G>T	XP_005270185.1:n.*23G>T
XM_005270131.3:c.*23G>T	XP_005270188.1:n.*23G>T
XM_005270132.3:c.*23G>T	XP_005270189.1:n.*23G>T
XM_011540124.1:c.*23G>T	XP_011538426.1:n.*23G>T
XM_011540125.1:c.*23G>T	XP_011538427.1:n.*23G>T
NM_001098668.3:c.*23G>T	NP_001092138.1:n.*23G>T
NM_001320813.1:c.*23G>T	NP_001307742.1:n.*23G>T
NM_001320814.1:c.*23G>T	NP_001307743.1:n.*23G>T
XM_005270128.3:c.*23G>T	XP_005270185.1:n.*23G>T
XM_017016608.1:c.*23G>T	XP_016872097.1:n.*23G>T
NM_001098668.4:c.*23G>T MANE Select	NP_001092138.1:n.*23G>T
NM_001320813.2:c.*23G>T	NP_001307742.1:n.*23G>T