Canonical Allele Identifier: CA2564955724
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377392_202377394del , CM000664.2:g.202377392_202377394del GRCh38
NC_000002.11:g.203242115_203242117del , CM000664.1:g.203242115_203242117del GRCh37
NC_000002.10:g.202950360_202950362del NCBI36
NG_009363.1:g.6066_6068del , LRG_712:g.6066_6068del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.-83_-81del MANE Select ENSP00000363708.4:n.-83_-81del
ENST00000374580.8:c.-83_-81del ENSP00000363708.4:n.-83_-81del
NM_001204.6:c.-83_-81del , LRG_712t1:c.-83_-81del NP_001195.2:n.-83_-81del
XM_011511687.1:c.-83_-81del XP_011509989.1:n.-83_-81del
XM_011511688.1:c.-83_-81del XP_011509990.1:n.-83_-81del
NM_001204.7:c.-83_-81del MANE Select NP_001195.2:n.-83_-81del