Canonical Allele Identifier: CA347487223

Gene: SFTPB

Linked Data

• MyVariant Identifiers: chr2:g.85890536C>A (hg19) ; chr2:g.85663413C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663413C>A , CM000664.2:g.85663413C>A	GRCh38
NC_000002.11:g.85890536C>A , CM000664.1:g.85890536C>A	GRCh37
NC_000002.10:g.85744047C>A	NCBI36
NG_016967.1:g.10329G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.935G>T	ENSP00000386346.2:p.Ser312Ile
ENST00000519937.7:c.935G>T MANE Select	ENSP00000428719.2:p.Ser312Ile
ENST00000393822.7:c.935G>T	ENSP00000377409.4:p.Ser312Ile
ENST00000409383.5:c.971G>T	ENSP00000386346.1:p.Ser324Ile
ENST00000428225.5:c.912G>T
ENST00000491167.1:n.135G>T
ENST00000494165.1:c.66G>T
ENST00000519937.6:c.935G>T	ENSP00000428719.2:p.Ser312Ile
NM_000542.3:c.971G>T	NP_000533.3:p.Ser324Ile
NM_198843.2:c.971G>T	NP_942140.2:p.Ser324Ile
XM_005264487.2:c.971G>T	XP_005264544.1:p.Ser324Ile
XM_005264488.2:c.923G>T	XP_005264545.2:p.Ser308Ile
XM_005264490.3:c.935G>T	XP_005264547.2:p.Ser312Ile
XM_005264488.4:c.923G>T	XP_005264545.2:p.Ser308Ile
XM_005264490.4:c.935G>T	XP_005264547.2:p.Ser312Ile
NM_000542.4:c.935G>T	NP_000533.4:p.Ser312Ile
NM_001367281.1:c.935G>T	NP_001354210.1:p.Ser312Ile
NM_198843.3:c.935G>T	NP_942140.3:p.Ser312Ile
NM_000542.5:c.935G>T MANE Select	NP_000533.4:p.Ser312Ile