Canonical Allele Identifier: CA347487129

Gene: SFTPB

Linked Data

• dbSNP Id: rs561113178
• gnomAD v4: 2-85663393-G-A
• MyVariant Identifiers: chr2:g.85890516G>A (hg19) ; chr2:g.85663393G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.955C>T	ENSP00000386346.2:p.Gln319Ter
ENST00000519937.7:c.955C>T MANE Select	ENSP00000428719.2:p.Gln319Ter
ENST00000393822.7:c.955C>T	ENSP00000377409.4:p.Gln319Ter
ENST00000409383.5:c.991C>T	ENSP00000386346.1:p.Gln331Ter
ENST00000428225.5:c.932C>T
ENST00000491167.1:n.155C>T
ENST00000494165.1:c.86C>T
ENST00000519937.6:c.955C>T	ENSP00000428719.2:p.Gln319Ter
NM_000542.3:c.991C>T	NP_000533.3:p.Gln331Ter
NM_198843.2:c.991C>T	NP_942140.2:p.Gln331Ter
XM_005264487.2:c.991C>T	XP_005264544.1:p.Gln331Ter
XM_005264488.2:c.943C>T	XP_005264545.2:p.Gln315Ter
XM_005264490.3:c.955C>T	XP_005264547.2:p.Gln319Ter
XM_005264488.4:c.943C>T	XP_005264545.2:p.Gln315Ter
XM_005264490.4:c.955C>T	XP_005264547.2:p.Gln319Ter
NM_000542.4:c.955C>T	NP_000533.4:p.Gln319Ter
NM_001367281.1:c.955C>T	NP_001354210.1:p.Gln319Ter
NM_198843.3:c.955C>T	NP_942140.3:p.Gln319Ter
NM_000542.5:c.955C>T MANE Select	NP_000533.4:p.Gln319Ter