Canonical Allele Identifier: CA893989108

Gene: SFTPB

Linked Data

• dbSNP Id: rs1213185189
• gnomAD v3: 2-85663554-GTCC-G
• gnomAD v4: 2-85663554-GTCC-G
• MyVariant Identifiers: chr2:g.85890678_85890680del (hg19) ; chr2:g.85663555_85663557del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663559_85663561del , CM000664.2:g.85663559_85663561del	GRCh38
NC_000002.11:g.85890682_85890684del , CM000664.1:g.85890682_85890684del	GRCh37
NC_000002.10:g.85744193_85744195del	NCBI36
NG_016967.1:g.10185_10187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.857-66_857-64del	ENSP00000386346.2:n.857-66_857-64del
ENST00000519937.7:c.857-66_857-64del MANE Select	ENSP00000428719.2:n.857-66_857-64del
ENST00000393822.7:c.857-66_857-64del	ENSP00000377409.4:n.857-66_857-64del
ENST00000409383.5:c.893-66_893-64del	ENSP00000386346.1:n.893-66_893-64del
ENST00000428225.5:c.846-78_846-76del
ENST00000519937.6:c.857-66_857-64del	ENSP00000428719.2:n.857-66_857-64del
NM_000542.3:c.893-66_893-64del	NP_000533.3:n.893-66_893-64del
NM_198843.2:c.893-66_893-64del	NP_942140.2:n.893-66_893-64del
XM_005264487.2:c.893-66_893-64del	XP_005264544.1:n.893-66_893-64del
XM_005264488.2:c.857-78_857-76del	XP_005264545.2:n.857-78_857-76del
XM_005264490.3:c.857-66_857-64del	XP_005264547.2:n.857-66_857-64del
XM_005264488.4:c.857-78_857-76del	XP_005264545.2:n.857-78_857-76del
XM_005264490.4:c.857-66_857-64del	XP_005264547.2:n.857-66_857-64del
NM_000542.4:c.857-66_857-64del	NP_000533.4:n.857-66_857-64del
NM_001367281.1:c.857-66_857-64del	NP_001354210.1:n.857-66_857-64del
NM_198843.3:c.857-66_857-64del	NP_942140.3:n.857-66_857-64del
NM_000542.5:c.857-66_857-64del MANE Select	NP_000533.4:n.857-66_857-64del