Canonical Allele Identifier: CA347487061

Gene: SFTPB

Linked Data

• dbSNP Id: rs1454836583
• gnomAD v2: 2-85890503-T-C
• gnomAD v3: 2-85663380-T-C
• gnomAD v4: 2-85663380-T-C
• MyVariant Identifiers: chr2:g.85890503T>C (hg19) ; chr2:g.85663380T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663380T>C , CM000664.2:g.85663380T>C	GRCh38
NC_000002.11:g.85890503T>C , CM000664.1:g.85890503T>C	GRCh37
NC_000002.10:g.85744014T>C	NCBI36
NG_016967.1:g.10362A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.968A>G	ENSP00000386346.2:p.Gln323Arg
ENST00000519937.7:c.968A>G MANE Select	ENSP00000428719.2:p.Gln323Arg
ENST00000393822.7:c.968A>G	ENSP00000377409.4:p.Gln323Arg
ENST00000409383.5:c.1004A>G	ENSP00000386346.1:p.Gln335Arg
ENST00000428225.5:c.945A>G
ENST00000491167.1:n.168A>G
ENST00000494165.1:c.99A>G
ENST00000519937.6:c.968A>G	ENSP00000428719.2:p.Gln323Arg
NM_000542.3:c.1004A>G	NP_000533.3:p.Gln335Arg
NM_198843.2:c.1004A>G	NP_942140.2:p.Gln335Arg
XM_005264487.2:c.1004A>G	XP_005264544.1:p.Gln335Arg
XM_005264488.2:c.956A>G	XP_005264545.2:p.Gln319Arg
XM_005264490.3:c.968A>G	XP_005264547.2:p.Gln323Arg
XM_005264488.4:c.956A>G	XP_005264545.2:p.Gln319Arg
XM_005264490.4:c.968A>G	XP_005264547.2:p.Gln323Arg
NM_000542.4:c.968A>G	NP_000533.4:p.Gln323Arg
NM_001367281.1:c.968A>G	NP_001354210.1:p.Gln323Arg
NM_198843.3:c.968A>G	NP_942140.3:p.Gln323Arg
NM_000542.5:c.968A>G MANE Select	NP_000533.4:p.Gln323Arg