Canonical Allele Identifier: CA347487251

Gene: SFTPB

Linked Data

• dbSNP Id: rs201986026
• gnomAD v2: 2-85890543-C-G
• gnomAD v3: 2-85663420-C-G
• gnomAD v4: 2-85663420-C-G
• MyVariant Identifiers: chr2:g.85890543C>G (hg19) ; chr2:g.85663420C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663420C>G , CM000664.2:g.85663420C>G	GRCh38
NC_000002.11:g.85890543C>G , CM000664.1:g.85890543C>G	GRCh37
NC_000002.10:g.85744054C>G	NCBI36
NG_016967.1:g.10322G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.928G>C	ENSP00000386346.2:p.Gly310Arg
ENST00000519937.7:c.928G>C MANE Select	ENSP00000428719.2:p.Gly310Arg
ENST00000393822.7:c.928G>C	ENSP00000377409.4:p.Gly310Arg
ENST00000409383.5:c.964G>C	ENSP00000386346.1:p.Gly322Arg
ENST00000428225.5:c.905G>C
ENST00000491167.1:n.128G>C
ENST00000494165.1:c.59G>C
ENST00000519937.6:c.928G>C	ENSP00000428719.2:p.Gly310Arg
NM_000542.3:c.964G>C	NP_000533.3:p.Gly322Arg
NM_198843.2:c.964G>C	NP_942140.2:p.Gly322Arg
XM_005264487.2:c.964G>C	XP_005264544.1:p.Gly322Arg
XM_005264488.2:c.916G>C	XP_005264545.2:p.Gly306Arg
XM_005264490.3:c.928G>C	XP_005264547.2:p.Gly310Arg
XM_005264488.4:c.916G>C	XP_005264545.2:p.Gly306Arg
XM_005264490.4:c.928G>C	XP_005264547.2:p.Gly310Arg
NM_000542.4:c.928G>C	NP_000533.4:p.Gly310Arg
NM_001367281.1:c.928G>C	NP_001354210.1:p.Gly310Arg
NM_198843.3:c.928G>C	NP_942140.3:p.Gly310Arg
NM_000542.5:c.928G>C MANE Select	NP_000533.4:p.Gly310Arg