Canonical Allele Identifier: CA2753901607
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377876_202377882dup , CM000664.2:g.202377876_202377882dup GRCh38
NC_000002.11:g.203242599_203242605dup , CM000664.1:g.203242599_203242605dup GRCh37
NC_000002.10:g.202950844_202950850dup NCBI36
NG_009363.1:g.6550_6556dup , LRG_712:g.6550_6556dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.76+326_76+332dup MANE Select ENSP00000363708.4:n.76+326_76+332dup
ENST00000374574.2:c.76+326_76+332dup ENSP00000363702.2:n.76+326_76+332dup
ENST00000374580.8:c.76+326_76+332dup ENSP00000363708.4:n.76+326_76+332dup
NM_001204.6:c.76+326_76+332dup , LRG_712t1:c.76+326_76+332dup NP_001195.2:n.76+326_76+332dup
XM_011511687.1:c.76+326_76+332dup XP_011509989.1:n.76+326_76+332dup
XM_011511688.1:c.76+326_76+332dup XP_011509990.1:n.76+326_76+332dup
NM_001204.7:c.76+326_76+332dup MANE Select NP_001195.2:n.76+326_76+332dup