Canonical Allele Identifier: CA427080649
Gene: SFTPB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.85890553G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85663430G>C , CM000664.2:g.85663430G>C GRCh38
NC_000002.11:g.85890553G>C , CM000664.1:g.85890553G>C GRCh37
NC_000002.10:g.85744064G>C NCBI36
NG_016967.1:g.10312C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.918C>G ENSP00000386346.2:p.Thr306=
ENST00000519937.7:c.918C>G MANE Select ENSP00000428719.2:p.Thr306=
ENST00000393822.7:c.918C>G ENSP00000377409.4:p.Thr306=
ENST00000409383.5:c.954C>G ENSP00000386346.1:p.Thr318=
ENST00000428225.5:c.895C>G
ENST00000491167.1:n.118C>G
ENST00000494165.1:c.49C>G
ENST00000519937.6:c.918C>G ENSP00000428719.2:p.Thr306=
NM_000542.3:c.954C>G NP_000533.3:p.Thr318=
NM_198843.2:c.954C>G NP_942140.2:p.Thr318=
XM_005264487.2:c.954C>G XP_005264544.1:p.Thr318=
XM_005264488.2:c.906C>G XP_005264545.2:p.Thr302=
XM_005264490.3:c.918C>G XP_005264547.2:p.Thr306=
XM_005264488.4:c.906C>G XP_005264545.2:p.Thr302=
XM_005264490.4:c.918C>G XP_005264547.2:p.Thr306=
NM_000542.4:c.918C>G NP_000533.4:p.Thr306=
NM_001367281.1:c.918C>G NP_001354210.1:p.Thr306=
NM_198843.3:c.918C>G NP_942140.3:p.Thr306=
NM_000542.5:c.918C>G MANE Select NP_000533.4:p.Thr306=