Canonical Allele Identifier: CA2558157855
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542083_202542084insTAATTTT , CM000664.2:g.202542083_202542084insTAATTTT GRCh38
NC_000002.11:g.203406806_203406807insTAATTTT , CM000664.1:g.203406806_203406807insTAATTTT GRCh37
NC_000002.10:g.203115051_203115052insTAATTTT NCBI36
NG_009363.1:g.170757_170758insTAATTTT , LRG_712:g.170757_170758insTAATTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1277-228_1277-227insTAATTTT MANE Select ENSP00000363708.4:n.1277-228_1277-227insTAATTTT
ENST00000638587.1:c.1208-228_1208-227insTAATTTT ENSP00000491062.1:n.1208-228_1208-227insTAATTTT
ENST00000374574.2:c.1277-228_1277-227insTAATTTT ENSP00000363702.2:n.1277-228_1277-227insTAATTTT
ENST00000374580.8:c.1277-228_1277-227insTAATTTT ENSP00000363708.4:n.1277-228_1277-227insTAATTTT
NM_001204.6:c.1277-228_1277-227insTAATTTT , LRG_712t1:c.1277-228_1277-227insTAATTTT NP_001195.2:n.1277-228_1277-227insTAATTTT
XM_011511687.1:c.1277-228_1277-227insTAATTTT XP_011509989.1:n.1277-228_1277-227insTAATTTT
XM_011511688.1:c.1277-228_1277-227insTAATTTT XP_011509990.1:n.1277-228_1277-227insTAATTTT
NM_001204.7:c.1277-228_1277-227insTAATTTT MANE Select NP_001195.2:n.1277-228_1277-227insTAATTTT