Canonical Allele Identifier: CA347487352

Gene: SFTPB

Linked Data

• ClinVar Variation Id: 1766887
• ClinVar RCV Id: RCV002373973
• gnomAD v4: 2-85663444-A-C
• MyVariant Identifiers: chr2:g.85890567A>C (hg19) ; chr2:g.85663444A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663444A>C , CM000664.2:g.85663444A>C	GRCh38
NC_000002.11:g.85890567A>C , CM000664.1:g.85890567A>C	GRCh37
NC_000002.10:g.85744078A>C	NCBI36
NG_016967.1:g.10298T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.904T>G	ENSP00000386346.2:p.Cys302Gly
ENST00000519937.7:c.904T>G MANE Select	ENSP00000428719.2:p.Cys302Gly
ENST00000393822.7:c.904T>G	ENSP00000377409.4:p.Cys302Gly
ENST00000409383.5:c.940T>G	ENSP00000386346.1:p.Cys314Gly
ENST00000428225.5:c.881T>G
ENST00000491167.1:n.104T>G
ENST00000494165.1:c.35T>G
ENST00000519937.6:c.904T>G	ENSP00000428719.2:p.Cys302Gly
NM_000542.3:c.940T>G	NP_000533.3:p.Cys314Gly
NM_198843.2:c.940T>G	NP_942140.2:p.Cys314Gly
XM_005264487.2:c.940T>G	XP_005264544.1:p.Cys314Gly
XM_005264488.2:c.892T>G	XP_005264545.2:p.Cys298Gly
XM_005264490.3:c.904T>G	XP_005264547.2:p.Cys302Gly
XM_005264488.4:c.892T>G	XP_005264545.2:p.Cys298Gly
XM_005264490.4:c.904T>G	XP_005264547.2:p.Cys302Gly
NM_000542.4:c.904T>G	NP_000533.4:p.Cys302Gly
NM_001367281.1:c.904T>G	NP_001354210.1:p.Cys302Gly
NM_198843.3:c.904T>G	NP_942140.3:p.Cys302Gly
NM_000542.5:c.904T>G MANE Select	NP_000533.4:p.Cys302Gly