Canonical Allele Identifier: CA51751394

Gene: SFTPB

Linked Data

• dbSNP Id: rs1014350399
• gnomAD v2: 2-85890669-T-C
• gnomAD v3: 2-85663546-T-C
• gnomAD v4: 2-85663546-T-C
• MyVariant Identifiers: chr2:g.85890669T>C (hg19) ; chr2:g.85663546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663546T>C , CM000664.2:g.85663546T>C	GRCh38
NC_000002.11:g.85890669T>C , CM000664.1:g.85890669T>C	GRCh37
NC_000002.10:g.85744180T>C	NCBI36
NG_016967.1:g.10196A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.857-55A>G	ENSP00000386346.2:n.857-55A>G
ENST00000519937.7:c.857-55A>G MANE Select	ENSP00000428719.2:n.857-55A>G
ENST00000393822.7:c.857-55A>G	ENSP00000377409.4:n.857-55A>G
ENST00000409383.5:c.893-55A>G	ENSP00000386346.1:n.893-55A>G
ENST00000428225.5:c.846-67A>G
ENST00000491167.1:n.2A>G
ENST00000519937.6:c.857-55A>G	ENSP00000428719.2:n.857-55A>G
NM_000542.3:c.893-55A>G	NP_000533.3:n.893-55A>G
NM_198843.2:c.893-55A>G	NP_942140.2:n.893-55A>G
XM_005264487.2:c.893-55A>G	XP_005264544.1:n.893-55A>G
XM_005264488.2:c.857-67A>G	XP_005264545.2:n.857-67A>G
XM_005264490.3:c.857-55A>G	XP_005264547.2:n.857-55A>G
XM_005264488.4:c.857-67A>G	XP_005264545.2:n.857-67A>G
XM_005264490.4:c.857-55A>G	XP_005264547.2:n.857-55A>G
NM_000542.4:c.857-55A>G	NP_000533.4:n.857-55A>G
NM_001367281.1:c.857-55A>G	NP_001354210.1:n.857-55A>G
NM_198843.3:c.857-55A>G	NP_942140.3:n.857-55A>G
NM_000542.5:c.857-55A>G MANE Select	NP_000533.4:n.857-55A>G