Canonical Allele Identifier: CA1321510294
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467376_202467378delinsAAT , CM000664.2:g.202467376_202467378delinsAAT GRCh38
NC_000002.11:g.203332099_203332101delinsAAT , CM000664.1:g.203332099_203332101delinsAAT GRCh37
NC_000002.10:g.203040344_203040346delinsAAT NCBI36
NG_009363.1:g.96050_96052delinsAAT , LRG_712:g.96050_96052delinsAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.248-143_248-141delinsAAT MANE Select ENSP00000363708.4:n.248-143_248-141delinsAAT
ENST00000638587.1:c.179-143_179-141delinsAAT ENSP00000491062.1:n.179-143_179-141delinsAAT
ENST00000374574.2:c.248-143_248-141delinsAAT ENSP00000363702.2:n.248-143_248-141delinsAAT
ENST00000374580.8:c.248-143_248-141delinsAAT ENSP00000363708.4:n.248-143_248-141delinsAAT
ENST00000479069.1:n.155-143_155-141delinsAAT
NM_001204.6:c.248-143_248-141delinsAAT , LRG_712t1:c.248-143_248-141delinsAAT NP_001195.2:n.248-143_248-141delinsAAT
XM_011511687.1:c.248-143_248-141delinsAAT XP_011509989.1:n.248-143_248-141delinsAAT
XM_011511688.1:c.248-143_248-141delinsAAT XP_011509990.1:n.248-143_248-141delinsAAT
NM_001204.7:c.248-143_248-141delinsAAT MANE Select NP_001195.2:n.248-143_248-141delinsAAT