Canonical Allele Identifier: CA350399650
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467585C>A , CM000664.2:g.202467585C>A GRCh38
NC_000002.11:g.203332308C>A , CM000664.1:g.203332308C>A GRCh37
NC_000002.10:g.203040553C>A NCBI36
NG_009363.1:g.96259C>A , LRG_712:g.96259C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.314C>A MANE Select ENSP00000363708.4:p.Pro105His
ENST00000638587.1:c.245C>A ENSP00000491062.1:p.Pro82His
ENST00000374574.2:c.314C>A ENSP00000363702.2:p.Pro105His
ENST00000374580.8:c.314C>A ENSP00000363708.4:p.Pro105His
ENST00000479069.1:n.221C>A
NM_001204.6:c.314C>A , LRG_712t1:c.314C>A NP_001195.2:p.Pro105His
XM_011511687.1:c.314C>A XP_011509989.1:p.Pro105His
XM_011511688.1:c.314C>A XP_011509990.1:p.Pro105His
NM_001204.7:c.314C>A MANE Select NP_001195.2:p.Pro105His