Canonical Allele Identifier: CA1321474597
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1690171822

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377366del , CM000664.2:g.202377366del GRCh38
NC_000002.11:g.203242089del , CM000664.1:g.203242089del GRCh37
NC_000002.10:g.202950334del NCBI36
NG_009363.1:g.6040del , LRG_712:g.6040del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-109del MANE Select ENSP00000363708.4:n.-109del
ENST00000374580.8:c.-109del ENSP00000363708.4:n.-109del
NM_001204.6:c.-109del , LRG_712t1:c.-109del NP_001195.2:n.-109del
XM_011511687.1:c.-109del XP_011509989.1:n.-109del
XM_011511688.1:c.-109del XP_011509990.1:n.-109del
NM_001204.7:c.-109del MANE Select NP_001195.2:n.-109del