Canonical Allele Identifier: CA347487418

Gene: SFTPB

Linked Data

• MyVariant Identifiers: chr2:g.85890578T>A (hg19) ; chr2:g.85663455T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663455T>A , CM000664.2:g.85663455T>A	GRCh38
NC_000002.11:g.85890578T>A , CM000664.1:g.85890578T>A	GRCh37
NC_000002.10:g.85744089T>A	NCBI36
NG_016967.1:g.10287A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.893A>T	ENSP00000386346.2:p.Glu298Val
ENST00000519937.7:c.893A>T MANE Select	ENSP00000428719.2:p.Glu298Val
ENST00000393822.7:c.893A>T	ENSP00000377409.4:p.Glu298Val
ENST00000409383.5:c.929A>T	ENSP00000386346.1:p.Glu310Val
ENST00000428225.5:c.870A>T
ENST00000491167.1:n.93A>T
ENST00000494165.1:c.24A>T
ENST00000519937.6:c.893A>T	ENSP00000428719.2:p.Glu298Val
NM_000542.3:c.929A>T	NP_000533.3:p.Glu310Val
NM_198843.2:c.929A>T	NP_942140.2:p.Glu310Val
XM_005264487.2:c.929A>T	XP_005264544.1:p.Glu310Val
XM_005264488.2:c.881A>T	XP_005264545.2:p.Glu294Val
XM_005264490.3:c.893A>T	XP_005264547.2:p.Glu298Val
XM_005264488.4:c.881A>T	XP_005264545.2:p.Glu294Val
XM_005264490.4:c.893A>T	XP_005264547.2:p.Glu298Val
NM_000542.4:c.893A>T	NP_000533.4:p.Glu298Val
NM_001367281.1:c.893A>T	NP_001354210.1:p.Glu298Val
NM_198843.3:c.893A>T	NP_942140.3:p.Glu298Val
NM_000542.5:c.893A>T MANE Select	NP_000533.4:p.Glu298Val