Canonical Allele Identifier: CA347487271

Gene: SFTPB

Linked Data

• MyVariant Identifiers: chr2:g.85890549G>T (hg19) ; chr2:g.85663426G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663426G>T , CM000664.2:g.85663426G>T	GRCh38
NC_000002.11:g.85890549G>T , CM000664.1:g.85890549G>T	GRCh37
NC_000002.10:g.85744060G>T	NCBI36
NG_016967.1:g.10316C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.922C>A	ENSP00000386346.2:p.Gln308Lys
ENST00000519937.7:c.922C>A MANE Select	ENSP00000428719.2:p.Gln308Lys
ENST00000393822.7:c.922C>A	ENSP00000377409.4:p.Gln308Lys
ENST00000409383.5:c.958C>A	ENSP00000386346.1:p.Gln320Lys
ENST00000428225.5:c.899C>A
ENST00000491167.1:n.122C>A
ENST00000494165.1:c.53C>A
ENST00000519937.6:c.922C>A	ENSP00000428719.2:p.Gln308Lys
NM_000542.3:c.958C>A	NP_000533.3:p.Gln320Lys
NM_198843.2:c.958C>A	NP_942140.2:p.Gln320Lys
XM_005264487.2:c.958C>A	XP_005264544.1:p.Gln320Lys
XM_005264488.2:c.910C>A	XP_005264545.2:p.Gln304Lys
XM_005264490.3:c.922C>A	XP_005264547.2:p.Gln308Lys
XM_005264488.4:c.910C>A	XP_005264545.2:p.Gln304Lys
XM_005264490.4:c.922C>A	XP_005264547.2:p.Gln308Lys
NM_000542.4:c.922C>A	NP_000533.4:p.Gln308Lys
NM_001367281.1:c.922C>A	NP_001354210.1:p.Gln308Lys
NM_198843.3:c.922C>A	NP_942140.3:p.Gln308Lys
NM_000542.5:c.922C>A MANE Select	NP_000533.4:p.Gln308Lys