Canonical Allele Identifier: CA16105149
Gene: SFTPB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.85658890T>C
GRCh37 chr2:g.85886013T>C
gnomAD v2:
2:85886013 T / C
gnomAD v3:
2:85658890 T / C
gnomAD v4:
chr2-85658890-T-C
Joint Max Group AF 0.23993811 (AFR)
Genomes Max Group AF 0.23993811 (AFR)
dbSNP:
7316
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85658890T>C , CM000664.2:g.85658890T>C GRCh38
NC_000002.11:g.85886013T>C , CM000664.1:g.85886013T>C GRCh37
NC_000002.10:g.85739524T>C NCBI36
NG_016967.1:g.14852A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.*20-35A>G ENSP00000386346.2:n.*20-35A>G
ENST00000519937.7:c.*812A>G MANE Select ENSP00000428719.2:n.*812A>G
ENST00000393822.7:c.*812A>G ENSP00000377409.4:n.*812A>G
ENST00000409383.5:c.*20-35A>G ENSP00000386346.1:n.*20-35A>G
ENST00000428225.5:c.1143-35A>G
ENST00000519937.6:c.*812A>G ENSP00000428719.2:n.*812A>G
NM_000542.3:c.*812A>G NP_000533.3:n.*812A>G
NM_198843.2:c.*20-35A>G NP_942140.2:n.*20-35A>G
XM_005264487.2:c.*856A>G XP_005264544.1:n.*856A>G
XM_005264488.2:c.*812A>G XP_005264545.2:n.*812A>G
XM_005264488.4:c.*812A>G XP_005264545.2:n.*812A>G
NM_000542.4:c.*812A>G NP_000533.4:n.*812A>G
NM_001367281.1:c.1003-35A>G NP_001354210.1:n.1003-35A>G
NM_198843.3:c.*20-35A>G NP_942140.3:n.*20-35A>G
NM_000542.5:c.*812A>G MANE Select NP_000533.4:n.*812A>G
Search 100 bp 5'
Search 100 bp 3'