Canonical Allele Identifier: CA347487090

Gene: SFTPB

Linked Data

• MyVariant Identifiers: chr2:g.85890508C>T (hg19) ; chr2:g.85663385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663385C>T , CM000664.2:g.85663385C>T	GRCh38
NC_000002.11:g.85890508C>T , CM000664.1:g.85890508C>T	GRCh37
NC_000002.10:g.85744019C>T	NCBI36
NG_016967.1:g.10357G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.963G>A	ENSP00000386346.2:p.Met321Ile
ENST00000519937.7:c.963G>A MANE Select	ENSP00000428719.2:p.Met321Ile
ENST00000393822.7:c.963G>A	ENSP00000377409.4:p.Met321Ile
ENST00000409383.5:c.999G>A	ENSP00000386346.1:p.Met333Ile
ENST00000428225.5:c.940G>A
ENST00000491167.1:n.163G>A
ENST00000494165.1:c.94G>A
ENST00000519937.6:c.963G>A	ENSP00000428719.2:p.Met321Ile
NM_000542.3:c.999G>A	NP_000533.3:p.Met333Ile
NM_198843.2:c.999G>A	NP_942140.2:p.Met333Ile
XM_005264487.2:c.999G>A	XP_005264544.1:p.Met333Ile
XM_005264488.2:c.951G>A	XP_005264545.2:p.Met317Ile
XM_005264490.3:c.963G>A	XP_005264547.2:p.Met321Ile
XM_005264488.4:c.951G>A	XP_005264545.2:p.Met317Ile
XM_005264490.4:c.963G>A	XP_005264547.2:p.Met321Ile
NM_000542.4:c.963G>A	NP_000533.4:p.Met321Ile
NM_001367281.1:c.963G>A	NP_001354210.1:p.Met321Ile
NM_198843.3:c.963G>A	NP_942140.3:p.Met321Ile
NM_000542.5:c.963G>A MANE Select	NP_000533.4:p.Met321Ile