Canonical Allele Identifier: CA1744007
Gene: SFTPB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.85665628G>A
GRCh37 chr2:g.85892751G>A
Revel Score:
ENST00000519937 (MANE Select) 0.090
ENST00000393822 0.090
ENST00000342375 0.090
ENST00000409383 0.090
ENST00000441838 0.090
gnomAD v2:
2:85892751 G / A
gnomAD v3:
2:85665628 G / A
gnomAD v4:
chr2-85665628-G-A
Joint Max Group AF 0.00002863 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002995 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85665628G>A , CM000664.2:g.85665628G>A GRCh38
NC_000002.11:g.85892751G>A , CM000664.1:g.85892751G>A GRCh37
NC_000002.10:g.85746262G>A NCBI36
NG_016967.1:g.8114C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.560C>T ENSP00000386346.2:p.Ala187Val
ENST00000519937.7:c.560C>T MANE Select ENSP00000428719.2:p.Ala187Val
ENST00000393822.7:c.560C>T ENSP00000377409.4:p.Ala187Val
ENST00000409383.5:c.596C>T ENSP00000386346.1:p.Ala199Val
ENST00000428225.5:c.549C>T
ENST00000519937.6:c.560C>T ENSP00000428719.2:p.Ala187Val
NM_000542.3:c.596C>T NP_000533.3:p.Ala199Val
NM_198843.2:c.596C>T NP_942140.2:p.Ala199Val
XM_005264487.2:c.596C>T XP_005264544.1:p.Ala199Val
XM_005264488.2:c.560C>T XP_005264545.2:p.Ala187Val
XM_005264490.3:c.560C>T XP_005264547.2:p.Ala187Val
XM_005264488.4:c.560C>T XP_005264545.2:p.Ala187Val
XM_005264490.4:c.560C>T XP_005264547.2:p.Ala187Val
NM_000542.4:c.560C>T NP_000533.4:p.Ala187Val
NM_001367281.1:c.560C>T NP_001354210.1:p.Ala187Val
NM_198843.3:c.560C>T NP_942140.3:p.Ala187Val
NM_000542.5:c.560C>T MANE Select NP_000533.4:p.Ala187Val
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