Canonical Allele Identifier: CA2577215633
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520279A>G , CM000664.2:g.202520279A>G GRCh38
NC_000002.11:g.203385002A>G , CM000664.1:g.203385002A>G GRCh37
NC_000002.10:g.203093247A>G NCBI36
NG_009363.1:g.148953A>G , LRG_712:g.148953A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.967+78A>G MANE Select ENSP00000363708.4:n.967+78A>G
ENST00000638587.1:c.898+78A>G ENSP00000491062.1:n.898+78A>G
ENST00000374574.2:c.967+78A>G ENSP00000363702.2:n.967+78A>G
ENST00000374580.8:c.967+78A>G ENSP00000363708.4:n.967+78A>G
NM_001204.6:c.967+78A>G , LRG_712t1:c.967+78A>G NP_001195.2:n.967+78A>G
XM_011511687.1:c.967+78A>G XP_011509989.1:n.967+78A>G
XM_011511688.1:c.967+78A>G XP_011509990.1:n.967+78A>G
NM_001204.7:c.967+78A>G MANE Select NP_001195.2:n.967+78A>G