Canonical Allele Identifier: CA347486990

Gene: SFTPB

Linked Data

• MyVariant Identifiers: chr2:g.85890488G>C (hg19) ; chr2:g.85663365G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663365G>C , CM000664.2:g.85663365G>C	GRCh38
NC_000002.11:g.85890488G>C , CM000664.1:g.85890488G>C	GRCh37
NC_000002.10:g.85743999G>C	NCBI36
NG_016967.1:g.10377C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.983C>G	ENSP00000386346.2:p.Ser328Cys
ENST00000519937.7:c.983C>G MANE Select	ENSP00000428719.2:p.Ser328Cys
ENST00000393822.7:c.983C>G	ENSP00000377409.4:p.Ser328Cys
ENST00000409383.5:c.1019C>G	ENSP00000386346.1:p.Ser340Cys
ENST00000428225.5:c.960C>G
ENST00000491167.1:n.183C>G
ENST00000494165.1:c.114C>G
ENST00000519937.6:c.983C>G	ENSP00000428719.2:p.Ser328Cys
NM_000542.3:c.1019C>G	NP_000533.3:p.Ser340Cys
NM_198843.2:c.1019C>G	NP_942140.2:p.Ser340Cys
XM_005264487.2:c.1019C>G	XP_005264544.1:p.Ser340Cys
XM_005264488.2:c.971C>G	XP_005264545.2:p.Ser324Cys
XM_005264490.3:c.983C>G	XP_005264547.2:p.Ser328Cys
XM_005264488.4:c.971C>G	XP_005264545.2:p.Ser324Cys
XM_005264490.4:c.983C>G	XP_005264547.2:p.Ser328Cys
NM_000542.4:c.983C>G	NP_000533.4:p.Ser328Cys
NM_001367281.1:c.983C>G	NP_001354210.1:p.Ser328Cys
NM_198843.3:c.983C>G	NP_942140.3:p.Ser328Cys
NM_000542.5:c.983C>G MANE Select	NP_000533.4:p.Ser328Cys