Canonical Allele Identifier: CA1743853

Gene: SFTPB

Linked Data

• dbSNP Id: rs778059302
• ExAC: 2:85890486 AGGAGCCAACACAGGCCT / A
• gnomAD v2: 2-85890486-AGGAGCCAACACAGGCCT-A
• gnomAD v4: 2-85663363-AGGAGCCAACACAGGCCT-A
• MyVariant Identifiers: chr2:g.85890487_85890503del (hg19) ; chr2:g.85663364_85663380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663369_85663385del , CM000664.2:g.85663369_85663385del	GRCh38
NC_000002.11:g.85890492_85890508del , CM000664.1:g.85890492_85890508del	GRCh37
NC_000002.10:g.85744003_85744019del	NCBI36
NG_016967.1:g.10362_10378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.968_984del	ENSP00000386346.2:p.Gln323LeufsTer?
ENST00000519937.7:c.968_984del MANE Select	ENSP00000428719.2:p.Gln323LeufsTer?
ENST00000393822.7:c.968_984del	ENSP00000377409.4:p.Gln323LeufsTer?
ENST00000409383.5:c.1004_1020del	ENSP00000386346.1:p.Gln335LeufsTer?
ENST00000428225.5:c.945_961del
ENST00000491167.1:n.168_184del
ENST00000494165.1:c.99_115del
ENST00000519937.6:c.968_984del	ENSP00000428719.2:p.Gln323LeufsTer?
NM_000542.3:c.1004_1020del	NP_000533.3:p.Gln335LeufsTer?
NM_198843.2:c.1004_1020del	NP_942140.2:p.Gln335LeufsTer?
XM_005264487.2:c.1004_1020del	XP_005264544.1:p.Gln335LeufsTer?
XM_005264488.2:c.956_972del	XP_005264545.2:p.Gln319LeufsTer?
XM_005264490.3:c.968_984del	XP_005264547.2:p.Gln323LeufsTer23
XM_005264488.4:c.956_972del	XP_005264545.2:p.Gln319LeufsTer?
XM_005264490.4:c.968_984del	XP_005264547.2:p.Gln323LeufsTer23
NM_000542.4:c.968_984del	NP_000533.4:p.Gln323LeufsTer?
NM_001367281.1:c.968_984del	NP_001354210.1:p.Gln323LeufsTer13
NM_198843.3:c.968_984del	NP_942140.3:p.Gln323LeufsTer?
NM_000542.5:c.968_984del MANE Select	NP_000533.4:p.Gln323LeufsTer?