Canonical Allele Identifier: CA347487118

Gene: SFTPB

Linked Data

• dbSNP Id: rs1240446002
• gnomAD v3: 2-85663390-C-T
• gnomAD v4: 2-85663390-C-T
• MyVariant Identifiers: chr2:g.85890513C>T (hg19) ; chr2:g.85663390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663390C>T , CM000664.2:g.85663390C>T	GRCh38
NC_000002.11:g.85890513C>T , CM000664.1:g.85890513C>T	GRCh37
NC_000002.10:g.85744024C>T	NCBI36
NG_016967.1:g.10352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.958G>A	ENSP00000386346.2:p.Ala320Thr
ENST00000519937.7:c.958G>A MANE Select	ENSP00000428719.2:p.Ala320Thr
ENST00000393822.7:c.958G>A	ENSP00000377409.4:p.Ala320Thr
ENST00000409383.5:c.994G>A	ENSP00000386346.1:p.Ala332Thr
ENST00000428225.5:c.935G>A
ENST00000491167.1:n.158G>A
ENST00000494165.1:c.89G>A
ENST00000519937.6:c.958G>A	ENSP00000428719.2:p.Ala320Thr
NM_000542.3:c.994G>A	NP_000533.3:p.Ala332Thr
NM_198843.2:c.994G>A	NP_942140.2:p.Ala332Thr
XM_005264487.2:c.994G>A	XP_005264544.1:p.Ala332Thr
XM_005264488.2:c.946G>A	XP_005264545.2:p.Ala316Thr
XM_005264490.3:c.958G>A	XP_005264547.2:p.Ala320Thr
XM_005264488.4:c.946G>A	XP_005264545.2:p.Ala316Thr
XM_005264490.4:c.958G>A	XP_005264547.2:p.Ala320Thr
NM_000542.4:c.958G>A	NP_000533.4:p.Ala320Thr
NM_001367281.1:c.958G>A	NP_001354210.1:p.Ala320Thr
NM_198843.3:c.958G>A	NP_942140.3:p.Ala320Thr
NM_000542.5:c.958G>A MANE Select	NP_000533.4:p.Ala320Thr