Canonical Allele Identifier: CA347487386

Gene: SFTPB

Linked Data

• MyVariant Identifiers: chr2:g.85890573G>T (hg19) ; chr2:g.85663450G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663450G>T , CM000664.2:g.85663450G>T	GRCh38
NC_000002.11:g.85890573G>T , CM000664.1:g.85890573G>T	GRCh37
NC_000002.10:g.85744084G>T	NCBI36
NG_016967.1:g.10292C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.898C>A	ENSP00000386346.2:p.His300Asn
ENST00000519937.7:c.898C>A MANE Select	ENSP00000428719.2:p.His300Asn
ENST00000393822.7:c.898C>A	ENSP00000377409.4:p.His300Asn
ENST00000409383.5:c.934C>A	ENSP00000386346.1:p.His312Asn
ENST00000428225.5:c.875C>A
ENST00000491167.1:n.98C>A
ENST00000494165.1:c.29C>A
ENST00000519937.6:c.898C>A	ENSP00000428719.2:p.His300Asn
NM_000542.3:c.934C>A	NP_000533.3:p.His312Asn
NM_198843.2:c.934C>A	NP_942140.2:p.His312Asn
XM_005264487.2:c.934C>A	XP_005264544.1:p.His312Asn
XM_005264488.2:c.886C>A	XP_005264545.2:p.His296Asn
XM_005264490.3:c.898C>A	XP_005264547.2:p.His300Asn
XM_005264488.4:c.886C>A	XP_005264545.2:p.His296Asn
XM_005264490.4:c.898C>A	XP_005264547.2:p.His300Asn
NM_000542.4:c.898C>A	NP_000533.4:p.His300Asn
NM_001367281.1:c.898C>A	NP_001354210.1:p.His300Asn
NM_198843.3:c.898C>A	NP_942140.3:p.His300Asn
NM_000542.5:c.898C>A MANE Select	NP_000533.4:p.His300Asn