Canonical Allele Identifier: CA15173256
Gene: SFTPB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.85668581C>T
GRCh37 chr2:g.85895704C>T
gnomAD v2:
2:85895704 C / T
gnomAD v3:
2:85668581 C / T
gnomAD v4:
chr2-85668581-C-T
Joint Max Group AF 0.24431678 (AFR)
Genomes Max Group AF 0.24544107 (AFR)
Exomes Max Group AF 0.22361726 (AFR)
ClinVar RCV:
RCV001684438
ClinVar Variation:
1271864
dbSNP:
3024791
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85668581C>T , CM000664.2:g.85668581C>T GRCh38
NC_000002.11:g.85895704C>T , CM000664.1:g.85895704C>T GRCh37
NC_000002.10:g.85749215C>T NCBI36
NG_016967.1:g.5161G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.-69+93G>A ENSP00000386346.2:n.-69+93G>A
ENST00000393822.7:c.-69+93G>A ENSP00000377409.4:n.-69+93G>A
ENST00000409383.5:c.-33+93G>A ENSP00000386346.1:n.-33+93G>A
NM_000542.3:c.-33+93G>A NP_000533.3:n.-33+93G>A
NM_198843.2:c.-33+93G>A NP_942140.2:n.-33+93G>A
NM_198843.3:c.-69+93G>A NP_942140.3:n.-69+93G>A
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