Canonical Allele Identifier: CA2662703739
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377365_202377369del , CM000664.2:g.202377365_202377369del GRCh38
NC_000002.11:g.203242088_203242092del , CM000664.1:g.203242088_203242092del GRCh37
NC_000002.10:g.202950333_202950337del NCBI36
NG_009363.1:g.6039_6043del , LRG_712:g.6039_6043del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-110_-106del MANE Select ENSP00000363708.4:n.-110_-106del
ENST00000374580.8:c.-110_-106del ENSP00000363708.4:n.-110_-106del
NM_001204.6:c.-110_-106del , LRG_712t1:c.-110_-106del NP_001195.2:n.-110_-106del
XM_011511687.1:c.-110_-106del XP_011509989.1:n.-110_-106del
XM_011511688.1:c.-110_-106del XP_011509990.1:n.-110_-106del
NM_001204.7:c.-110_-106del MANE Select NP_001195.2:n.-110_-106del