Canonical Allele Identifier: CA427080699

Gene: SFTPB

Linked Data

• MyVariant Identifiers: chr2:g.85890580_85890581insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663457_85663458insT , CM000664.2:g.85663457_85663458insT	GRCh38
NC_000002.11:g.85890580_85890581insT , CM000664.1:g.85890580_85890581insT	GRCh37
NC_000002.10:g.85744091_85744092insT	NCBI36
NG_016967.1:g.10284_10285insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.890_891insA	ENSP00000386346.2:p.Glu298Ter
ENST00000519937.7:c.890_891insA MANE Select	ENSP00000428719.2:p.Glu298Ter
ENST00000393822.7:c.890_891insA	ENSP00000377409.4:p.Glu298Ter
ENST00000409383.5:c.926_927insA	ENSP00000386346.1:p.Glu310Ter
ENST00000428225.5:c.867_868insA
ENST00000491167.1:n.90_91insA
ENST00000494165.1:c.21_22insA
ENST00000519937.6:c.890_891insA	ENSP00000428719.2:p.Glu298Ter
NM_000542.3:c.926_927insA	NP_000533.3:p.Glu310Ter
NM_198843.2:c.926_927insA	NP_942140.2:p.Glu310Ter
XM_005264487.2:c.926_927insA	XP_005264544.1:p.Glu310Ter
XM_005264488.2:c.878_879insA	XP_005264545.2:p.Glu294Ter
XM_005264490.3:c.890_891insA	XP_005264547.2:p.Glu298Ter
XM_005264488.4:c.878_879insA	XP_005264545.2:p.Glu294Ter
XM_005264490.4:c.890_891insA	XP_005264547.2:p.Glu298Ter
NM_000542.4:c.890_891insA	NP_000533.4:p.Glu298Ter
NM_001367281.1:c.890_891insA	NP_001354210.1:p.Glu298Ter
NM_198843.3:c.890_891insA	NP_942140.3:p.Glu298Ter
NM_000542.5:c.890_891insA MANE Select	NP_000533.4:p.Glu298Ter