Canonical Allele Identifier: CA2971840962

Gene: SFTPB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663458dup , CM000664.2:g.85663458dup	GRCh38
NC_000002.11:g.85890581dup , CM000664.1:g.85890581dup	GRCh37
NC_000002.10:g.85744092dup	NCBI36
NG_016967.1:g.10284dup

Transcript Alleles

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