Canonical Allele Identifier: CA427080641

Gene: SFTPB

Linked Data

• dbSNP Id: rs1453603497
• gnomAD v3: 2-85663427-G-T
• gnomAD v4: 2-85663427-G-T
• MyVariant Identifiers: chr2:g.85890550G>T (hg19) ; chr2:g.85663427G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663427G>T , CM000664.2:g.85663427G>T	GRCh38
NC_000002.11:g.85890550G>T , CM000664.1:g.85890550G>T	GRCh37
NC_000002.10:g.85744061G>T	NCBI36
NG_016967.1:g.10315C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.921C>A	ENSP00000386346.2:p.Thr307=
ENST00000519937.7:c.921C>A MANE Select	ENSP00000428719.2:p.Thr307=
ENST00000393822.7:c.921C>A	ENSP00000377409.4:p.Thr307=
ENST00000409383.5:c.957C>A	ENSP00000386346.1:p.Thr319=
ENST00000428225.5:c.898C>A
ENST00000491167.1:n.121C>A
ENST00000494165.1:c.52C>A
ENST00000519937.6:c.921C>A	ENSP00000428719.2:p.Thr307=
NM_000542.3:c.957C>A	NP_000533.3:p.Thr319=
NM_198843.2:c.957C>A	NP_942140.2:p.Thr319=
XM_005264487.2:c.957C>A	XP_005264544.1:p.Thr319=
XM_005264488.2:c.909C>A	XP_005264545.2:p.Thr303=
XM_005264490.3:c.921C>A	XP_005264547.2:p.Thr307=
XM_005264488.4:c.909C>A	XP_005264545.2:p.Thr303=
XM_005264490.4:c.921C>A	XP_005264547.2:p.Thr307=
NM_000542.4:c.921C>A	NP_000533.4:p.Thr307=
NM_001367281.1:c.921C>A	NP_001354210.1:p.Thr307=
NM_198843.3:c.921C>A	NP_942140.3:p.Thr307=
NM_000542.5:c.921C>A MANE Select	NP_000533.4:p.Thr307=