Canonical Allele Identifier: CA177942
Gene: SFTPB HGNC NCBI
COSMIC:
COSM4133962 (not active)
COSM4133963 (not active)
MyVariant.info:
GRCh38 chr2:g.85666618G>A
GRCh37 chr2:g.85893741G>A
Revel Score:
ENST00000519937 (MANE Select) 0.152
ENST00000393822 0.152
ENST00000342375 0.152
ENST00000409383 0.152
ENST00000441838 0.152
gnomAD v2:
2:85893741 G / A
gnomAD v3:
2:85666618 G / A
gnomAD v4:
chr2-85666618-G-A
Joint Max Group AF 0.74605691 (AFR)
Genomes Max Group AF 0.73797994 (AFR)
Exomes Max Group AF 0.75124064 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85666618G>A , CM000664.2:g.85666618G>A GRCh38
NC_000002.11:g.85893741G>A , CM000664.1:g.85893741G>A GRCh37
NC_000002.10:g.85747252G>A NCBI36
NG_016967.1:g.7124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.392C>T ENSP00000386346.2:p.Thr131Ile
ENST00000519937.7:c.392C>T MANE Select ENSP00000428719.2:p.Thr131Ile
ENST00000393822.7:c.392C>T ENSP00000377409.4:p.Thr131Ile
ENST00000409383.5:c.428C>T ENSP00000386346.1:p.Thr143Ile
ENST00000428225.5:c.381C>T
ENST00000473692.1:n.398C>T
ENST00000519937.6:c.392C>T ENSP00000428719.2:p.Thr131Ile
NM_000542.3:c.428C>T NP_000533.3:p.Thr143Ile
NM_198843.2:c.428C>T NP_942140.2:p.Thr143Ile
XM_005264487.2:c.428C>T XP_005264544.1:p.Thr143Ile
XM_005264488.2:c.392C>T XP_005264545.2:p.Thr131Ile
XM_005264490.3:c.392C>T XP_005264547.2:p.Thr131Ile
XM_005264488.4:c.392C>T XP_005264545.2:p.Thr131Ile
XM_005264490.4:c.392C>T XP_005264547.2:p.Thr131Ile
NM_000542.4:c.392C>T NP_000533.4:p.Thr131Ile
NM_001367281.1:c.392C>T NP_001354210.1:p.Thr131Ile
NM_198843.3:c.392C>T NP_942140.3:p.Thr131Ile
NM_000542.5:c.392C>T MANE Select NP_000533.4:p.Thr131Ile
Search 100 bp 5'
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