Canonical Allele Identifier: CA1743911

Gene: SFTPB

Linked Data

• ClinVar Variation Id: 263205
• ClinVar RCV Id: RCV000252469 ; RCV001711756 ; RCV001807203 ; RCV002446498
• dbSNP Id: rs893159
• ExAC: 2:85890771 T / G
• gnomAD v2: 2-85890771-T-G
• gnomAD v3: 2-85663648-T-G
• gnomAD v4: 2-85663648-T-G
• MyVariant Identifiers: chr2:g.85890771T>G (hg19) ; chr2:g.85663648T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663648T>G , CM000664.2:g.85663648T>G	GRCh38
NC_000002.11:g.85890771T>G , CM000664.1:g.85890771T>G	GRCh37
NC_000002.10:g.85744282T>G	NCBI36
NG_016967.1:g.10094A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.856+16A>C	ENSP00000386346.2:n.856+16A>C
ENST00000519937.7:c.856+16A>C MANE Select	ENSP00000428719.2:n.856+16A>C
ENST00000393822.7:c.856+16A>C	ENSP00000377409.4:n.856+16A>C
ENST00000409383.5:c.892+16A>C	ENSP00000386346.1:n.892+16A>C
ENST00000428225.5:c.845+16A>C
ENST00000519937.6:c.856+16A>C	ENSP00000428719.2:n.856+16A>C
NM_000542.3:c.892+16A>C	NP_000533.3:n.892+16A>C
NM_198843.2:c.892+16A>C	NP_942140.2:n.892+16A>C
XM_005264487.2:c.892+16A>C	XP_005264544.1:n.892+16A>C
XM_005264488.2:c.856+16A>C	XP_005264545.2:n.856+16A>C
XM_005264490.3:c.856+16A>C	XP_005264547.2:n.856+16A>C
XM_005264488.4:c.856+16A>C	XP_005264545.2:n.856+16A>C
XM_005264490.4:c.856+16A>C	XP_005264547.2:n.856+16A>C
NM_000542.4:c.856+16A>C	NP_000533.4:n.856+16A>C
NM_001367281.1:c.856+16A>C	NP_001354210.1:n.856+16A>C
NM_198843.3:c.856+16A>C	NP_942140.3:n.856+16A>C
NM_000542.5:c.856+16A>C MANE Select	NP_000533.4:n.856+16A>C