Canonical Allele Identifier: CA347487270

Gene: SFTPB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.922C>G	ENSP00000386346.2:p.Gln308Glu
ENST00000519937.7:c.922C>G MANE Select	ENSP00000428719.2:p.Gln308Glu
ENST00000393822.7:c.922C>G	ENSP00000377409.4:p.Gln308Glu
ENST00000409383.5:c.958C>G	ENSP00000386346.1:p.Gln320Glu
ENST00000428225.5:c.899C>G
ENST00000491167.1:n.122C>G
ENST00000494165.1:c.53C>G
ENST00000519937.6:c.922C>G	ENSP00000428719.2:p.Gln308Glu
NM_000542.3:c.958C>G	NP_000533.3:p.Gln320Glu
NM_198843.2:c.958C>G	NP_942140.2:p.Gln320Glu
XM_005264487.2:c.958C>G	XP_005264544.1:p.Gln320Glu
XM_005264488.2:c.910C>G	XP_005264545.2:p.Gln304Glu
XM_005264490.3:c.922C>G	XP_005264547.2:p.Gln308Glu
XM_005264488.4:c.910C>G	XP_005264545.2:p.Gln304Glu
XM_005264490.4:c.922C>G	XP_005264547.2:p.Gln308Glu
NM_000542.4:c.922C>G	NP_000533.4:p.Gln308Glu
NM_001367281.1:c.922C>G	NP_001354210.1:p.Gln308Glu
NM_198843.3:c.922C>G	NP_942140.3:p.Gln308Glu
NM_000542.5:c.922C>G MANE Select	NP_000533.4:p.Gln308Glu