Canonical Allele Identifier: CA2609868982

Gene: SFTPA2

Linked Data

• gnomAD v4: 10-79556992-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79556992G>A , CM000672.2:g.79556992G>A	GRCh38
NC_000010.10:g.81316748G>A , CM000672.1:g.81316748G>A	GRCh37
NG_013046.1:g.8416C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.*217C>T MANE Select	ENSP00000361400.2:n.*217C>T
ENST00000372325.6:c.*217C>T	ENSP00000361400.2:n.*217C>T
NM_001098668.2:c.*217C>T	NP_001092138.1:n.*217C>T
XM_005270128.2:c.*217C>T	XP_005270185.1:n.*217C>T
XM_005270131.3:c.*217C>T	XP_005270188.1:n.*217C>T
XM_005270132.3:c.*217C>T	XP_005270189.1:n.*217C>T
XM_011540124.1:c.*217C>T	XP_011538426.1:n.*217C>T
XM_011540125.1:c.*217C>T	XP_011538427.1:n.*217C>T
NM_001098668.3:c.*217C>T	NP_001092138.1:n.*217C>T
NM_001320813.1:c.*217C>T	NP_001307742.1:n.*217C>T
NM_001320814.1:c.*217C>T	NP_001307743.1:n.*217C>T
XM_005270128.3:c.*217C>T	XP_005270185.1:n.*217C>T
XM_017016608.1:c.*217C>T	XP_016872097.1:n.*217C>T
NM_001098668.4:c.*217C>T MANE Select	NP_001092138.1:n.*217C>T
NM_001320813.2:c.*217C>T	NP_001307742.1:n.*217C>T