Canonical Allele Identifier: CA1744003
Gene: SFTPB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.85665618C>G
GRCh37 chr2:g.85892741C>G
Revel Score:
ENST00000428225 0.046
gnomAD v2:
2:85892741 C / G
gnomAD v3:
2:85665618 C / G
gnomAD v4:
chr2-85665618-C-G
Joint Max Group AF 0.00028064 (NFE)
Genomes Max Group AF 0.00024284 (NFE)
Exomes Max Group AF 0.00027714 (NFE)
ClinVar RCV:
RCV000330690
RCV004021820
ClinVar Variation:
337308
dbSNP:
141123597
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85665618C>G , CM000664.2:g.85665618C>G GRCh38
NC_000002.11:g.85892741C>G , CM000664.1:g.85892741C>G GRCh37
NC_000002.10:g.85746252C>G NCBI36
NG_016967.1:g.8124G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.570G>C ENSP00000386346.2:p.Gly190=
ENST00000519937.7:c.570G>C MANE Select ENSP00000428719.2:p.Gly190=
ENST00000393822.7:c.570G>C ENSP00000377409.4:p.Gly190=
ENST00000409383.5:c.606G>C ENSP00000386346.1:p.Gly202=
ENST00000428225.5:c.559G>C
ENST00000519937.6:c.570G>C ENSP00000428719.2:p.Gly190=
NM_000542.3:c.606G>C NP_000533.3:p.Gly202=
NM_198843.2:c.606G>C NP_942140.2:p.Gly202=
XM_005264487.2:c.606G>C XP_005264544.1:p.Gly202=
XM_005264488.2:c.570G>C XP_005264545.2:p.Gly190=
XM_005264490.3:c.570G>C XP_005264547.2:p.Gly190=
XM_005264488.4:c.570G>C XP_005264545.2:p.Gly190=
XM_005264490.4:c.570G>C XP_005264547.2:p.Gly190=
NM_000542.4:c.570G>C NP_000533.4:p.Gly190=
NM_001367281.1:c.570G>C NP_001354210.1:p.Gly190=
NM_198843.3:c.570G>C NP_942140.3:p.Gly190=
NM_000542.5:c.570G>C MANE Select NP_000533.4:p.Gly190=
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