Canonical Allele Identifier: CA347486976

Gene: SFTPB

Linked Data

• ClinVar Variation Id: 2612913
• ClinVar RCV Id: RCV004356291
• MyVariant Identifiers: chr2:g.85890485C>G (hg19) ; chr2:g.85663362C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663362C>G , CM000664.2:g.85663362C>G	GRCh38
NC_000002.11:g.85890485C>G , CM000664.1:g.85890485C>G	GRCh37
NC_000002.10:g.85743996C>G	NCBI36
NG_016967.1:g.10380G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.986G>C	ENSP00000386346.2:p.Trp329Ser
ENST00000519937.7:c.986G>C MANE Select	ENSP00000428719.2:p.Trp329Ser
ENST00000393822.7:c.986G>C	ENSP00000377409.4:p.Trp329Ser
ENST00000409383.5:c.1022G>C	ENSP00000386346.1:p.Trp341Ser
ENST00000428225.5:c.963G>C
ENST00000491167.1:n.186G>C
ENST00000494165.1:c.117G>C
ENST00000519937.6:c.986G>C	ENSP00000428719.2:p.Trp329Ser
NM_000542.3:c.1022G>C	NP_000533.3:p.Trp341Ser
NM_198843.2:c.1022G>C	NP_942140.2:p.Trp341Ser
XM_005264487.2:c.1022G>C	XP_005264544.1:p.Trp341Ser
XM_005264488.2:c.974G>C	XP_005264545.2:p.Trp325Ser
XM_005264490.3:c.986G>C	XP_005264547.2:p.Trp329Ser
XM_005264488.4:c.974G>C	XP_005264545.2:p.Trp325Ser
XM_005264490.4:c.986G>C	XP_005264547.2:p.Trp329Ser
NM_000542.4:c.986G>C	NP_000533.4:p.Trp329Ser
NM_001367281.1:c.986G>C	NP_001354210.1:p.Trp329Ser
NM_198843.3:c.986G>C	NP_942140.3:p.Trp329Ser
NM_000542.5:c.986G>C MANE Select	NP_000533.4:p.Trp329Ser