Canonical Allele Identifier: CA2609869122

Gene: SFTPA2

Linked Data

• dbSNP Id: rs2132044568
• gnomAD v4: 10-79557164-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79557165_79557166del , CM000672.2:g.79557165_79557166del	GRCh38
NC_000010.10:g.81316921_81316922del , CM000672.1:g.81316921_81316922del	GRCh37
NG_013046.1:g.8242_8243del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372325.7:c.*43_*44del MANE Select	ENSP00000361400.2:n.*43_*44del
ENST00000372325.6:c.*43_*44del	ENSP00000361400.2:n.*43_*44del
NM_001098668.2:c.*43_*44del	NP_001092138.1:n.*43_*44del
XM_005270128.2:c.*43_*44del	XP_005270185.1:n.*43_*44del
XM_005270131.3:c.*43_*44del	XP_005270188.1:n.*43_*44del
XM_005270132.3:c.*43_*44del	XP_005270189.1:n.*43_*44del
XM_011540124.1:c.*43_*44del	XP_011538426.1:n.*43_*44del
XM_011540125.1:c.*43_*44del	XP_011538427.1:n.*43_*44del
NM_001098668.3:c.*43_*44del	NP_001092138.1:n.*43_*44del
NM_001320813.1:c.*43_*44del	NP_001307742.1:n.*43_*44del
NM_001320814.1:c.*43_*44del	NP_001307743.1:n.*43_*44del
XM_005270128.3:c.*43_*44del	XP_005270185.1:n.*43_*44del
XM_017016608.1:c.*43_*44del	XP_016872097.1:n.*43_*44del
NM_001098668.4:c.*43_*44del MANE Select	NP_001092138.1:n.*43_*44del
NM_001320813.2:c.*43_*44del	NP_001307742.1:n.*43_*44del