Canonical Allele Identifier: CA1743857

Gene: SFTPB

Linked Data

• dbSNP Id: rs561113178
• ExAC: 2:85890516 G / T
• gnomAD v2: 2-85890516-G-T
• gnomAD v3: 2-85663393-G-T
• gnomAD v4: 2-85663393-G-T
• MyVariant Identifiers: chr2:g.85890516G>T (hg19) ; chr2:g.85663393G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663393G>T , CM000664.2:g.85663393G>T	GRCh38
NC_000002.11:g.85890516G>T , CM000664.1:g.85890516G>T	GRCh37
NC_000002.10:g.85744027G>T	NCBI36
NG_016967.1:g.10349C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.955C>A	ENSP00000386346.2:p.Gln319Lys
ENST00000519937.7:c.955C>A MANE Select	ENSP00000428719.2:p.Gln319Lys
ENST00000393822.7:c.955C>A	ENSP00000377409.4:p.Gln319Lys
ENST00000409383.5:c.991C>A	ENSP00000386346.1:p.Gln331Lys
ENST00000428225.5:c.932C>A
ENST00000491167.1:n.155C>A
ENST00000494165.1:c.86C>A
ENST00000519937.6:c.955C>A	ENSP00000428719.2:p.Gln319Lys
NM_000542.3:c.991C>A	NP_000533.3:p.Gln331Lys
NM_198843.2:c.991C>A	NP_942140.2:p.Gln331Lys
XM_005264487.2:c.991C>A	XP_005264544.1:p.Gln331Lys
XM_005264488.2:c.943C>A	XP_005264545.2:p.Gln315Lys
XM_005264490.3:c.955C>A	XP_005264547.2:p.Gln319Lys
XM_005264488.4:c.943C>A	XP_005264545.2:p.Gln315Lys
XM_005264490.4:c.955C>A	XP_005264547.2:p.Gln319Lys
NM_000542.4:c.955C>A	NP_000533.4:p.Gln319Lys
NM_001367281.1:c.955C>A	NP_001354210.1:p.Gln319Lys
NM_198843.3:c.955C>A	NP_942140.3:p.Gln319Lys
NM_000542.5:c.955C>A MANE Select	NP_000533.4:p.Gln319Lys