Canonical Allele Identifier: CA350399645
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467582C>A , CM000664.2:g.202467582C>A GRCh38
NC_000002.11:g.203332305C>A , CM000664.1:g.203332305C>A GRCh37
NC_000002.10:g.203040550C>A NCBI36
NG_009363.1:g.96256C>A , LRG_712:g.96256C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.311C>A MANE Select ENSP00000363708.4:p.Thr104Asn
ENST00000638587.1:c.242C>A ENSP00000491062.1:p.Thr81Asn
ENST00000374574.2:c.311C>A ENSP00000363702.2:p.Thr104Asn
ENST00000374580.8:c.311C>A ENSP00000363708.4:p.Thr104Asn
ENST00000479069.1:n.218C>A
NM_001204.6:c.311C>A , LRG_712t1:c.311C>A NP_001195.2:p.Thr104Asn
XM_011511687.1:c.311C>A XP_011509989.1:p.Thr104Asn
XM_011511688.1:c.311C>A XP_011509990.1:p.Thr104Asn
NM_001204.7:c.311C>A MANE Select NP_001195.2:p.Thr104Asn