Canonical Allele Identifier: CA347487426

Gene: SFTPB

Linked Data

• MyVariant Identifiers: chr2:g.85890579C>G (hg19) ; chr2:g.85663456C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663456C>G , CM000664.2:g.85663456C>G	GRCh38
NC_000002.11:g.85890579C>G , CM000664.1:g.85890579C>G	GRCh37
NC_000002.10:g.85744090C>G	NCBI36
NG_016967.1:g.10286G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.892G>C	ENSP00000386346.2:p.Glu298Gln
ENST00000519937.7:c.892G>C MANE Select	ENSP00000428719.2:p.Glu298Gln
ENST00000393822.7:c.892G>C	ENSP00000377409.4:p.Glu298Gln
ENST00000409383.5:c.928G>C	ENSP00000386346.1:p.Glu310Gln
ENST00000428225.5:c.869G>C
ENST00000491167.1:n.92G>C
ENST00000494165.1:c.23G>C
ENST00000519937.6:c.892G>C	ENSP00000428719.2:p.Glu298Gln
NM_000542.3:c.928G>C	NP_000533.3:p.Glu310Gln
NM_198843.2:c.928G>C	NP_942140.2:p.Glu310Gln
XM_005264487.2:c.928G>C	XP_005264544.1:p.Glu310Gln
XM_005264488.2:c.880G>C	XP_005264545.2:p.Glu294Gln
XM_005264490.3:c.892G>C	XP_005264547.2:p.Glu298Gln
XM_005264488.4:c.880G>C	XP_005264545.2:p.Glu294Gln
XM_005264490.4:c.892G>C	XP_005264547.2:p.Glu298Gln
NM_000542.4:c.892G>C	NP_000533.4:p.Glu298Gln
NM_001367281.1:c.892G>C	NP_001354210.1:p.Glu298Gln
NM_198843.3:c.892G>C	NP_942140.3:p.Glu298Gln
NM_000542.5:c.892G>C MANE Select	NP_000533.4:p.Glu298Gln