Canonical Allele Identifier: CA534183672

Gene: SFTPB

Linked Data

• dbSNP Id: rs1438524821
• gnomAD v2: 2-85890422-G-A
• MyVariant Identifiers: chr2:g.85890422G>A (hg19) ; chr2:g.85663299G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663299G>A , CM000664.2:g.85663299G>A	GRCh38
NC_000002.11:g.85890422G>A , CM000664.1:g.85890422G>A	GRCh37
NC_000002.10:g.85743933G>A	NCBI36
NG_016967.1:g.10443C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.1002+47C>T	ENSP00000386346.2:n.1002+47C>T
ENST00000519937.7:c.1002+47C>T MANE Select	ENSP00000428719.2:n.1002+47C>T
ENST00000393822.7:c.1002+47C>T	ENSP00000377409.4:n.1002+47C>T
ENST00000409383.5:c.1038+47C>T	ENSP00000386346.1:n.1038+47C>T
ENST00000428225.5:c.979+47C>T
ENST00000491167.1:n.202+47C>T
ENST00000494165.1:c.133+47C>T
ENST00000519937.6:c.1002+47C>T	ENSP00000428719.2:n.1002+47C>T
NM_000542.3:c.1038+47C>T	NP_000533.3:n.1038+47C>T
NM_198843.2:c.1038+47C>T	NP_942140.2:n.1038+47C>T
XM_005264487.2:c.1038+47C>T	XP_005264544.1:n.1038+47C>T
XM_005264488.2:c.990+47C>T	XP_005264545.2:n.990+47C>T
XM_005264490.3:c.1002+47C>T	XP_005264547.2:n.1002+47C>T
XM_005264488.4:c.990+47C>T	XP_005264545.2:n.990+47C>T
XM_005264490.4:c.1002+47C>T	XP_005264547.2:n.1002+47C>T
NM_000542.4:c.1002+47C>T	NP_000533.4:n.1002+47C>T
NM_001367281.1:c.1002+47C>T	NP_001354210.1:n.1002+47C>T
NM_198843.3:c.1002+47C>T	NP_942140.3:n.1002+47C>T
NM_000542.5:c.1002+47C>T MANE Select	NP_000533.4:n.1002+47C>T