Canonical Allele Identifier: CA1743864

Gene: SFTPB

Linked Data

• dbSNP Id: rs762371851
• ExAC: 2:85890574 G / A
• gnomAD v2: 2-85890574-G-A
• gnomAD v3: 2-85663451-G-A
• gnomAD v4: 2-85663451-G-A
• MyVariant Identifiers: chr2:g.85890574G>A (hg19) ; chr2:g.85663451G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663451G>A , CM000664.2:g.85663451G>A	GRCh38
NC_000002.11:g.85890574G>A , CM000664.1:g.85890574G>A	GRCh37
NC_000002.10:g.85744085G>A	NCBI36
NG_016967.1:g.10291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.897C>T	ENSP00000386346.2:p.Cys299=
ENST00000519937.7:c.897C>T MANE Select	ENSP00000428719.2:p.Cys299=
ENST00000393822.7:c.897C>T	ENSP00000377409.4:p.Cys299=
ENST00000409383.5:c.933C>T	ENSP00000386346.1:p.Cys311=
ENST00000428225.5:c.874C>T
ENST00000491167.1:n.97C>T
ENST00000494165.1:c.28C>T
ENST00000519937.6:c.897C>T	ENSP00000428719.2:p.Cys299=
NM_000542.3:c.933C>T	NP_000533.3:p.Cys311=
NM_198843.2:c.933C>T	NP_942140.2:p.Cys311=
XM_005264487.2:c.933C>T	XP_005264544.1:p.Cys311=
XM_005264488.2:c.885C>T	XP_005264545.2:p.Cys295=
XM_005264490.3:c.897C>T	XP_005264547.2:p.Cys299=
XM_005264488.4:c.885C>T	XP_005264545.2:p.Cys295=
XM_005264490.4:c.897C>T	XP_005264547.2:p.Cys299=
NM_000542.4:c.897C>T	NP_000533.4:p.Cys299=
NM_001367281.1:c.897C>T	NP_001354210.1:p.Cys299=
NM_198843.3:c.897C>T	NP_942140.3:p.Cys299=
NM_000542.5:c.897C>T MANE Select	NP_000533.4:p.Cys299=