Canonical Allele Identifier: CA1321507420
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464788_202464792delinsCCTTT , CM000664.2:g.202464788_202464792delinsCCTTT GRCh38
NC_000002.11:g.203329511_203329515delinsCCTTT , CM000664.1:g.203329511_203329515delinsCCTTT GRCh37
NC_000002.10:g.203037756_203037760delinsCCTTT NCBI36
NG_009363.1:g.93462_93466delinsCCTTT , LRG_712:g.93462_93466delinsCCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.77-21_77-17delinsCCTTT MANE Select ENSP00000363708.4:n.77-21_77-17delinsCCTTT
ENST00000374574.2:c.77-21_77-17delinsCCTTT ENSP00000363702.2:n.77-21_77-17delinsCCTTT
ENST00000374580.8:c.77-21_77-17delinsCCTTT ENSP00000363708.4:n.77-21_77-17delinsCCTTT
NM_001204.6:c.77-21_77-17delinsCCTTT , LRG_712t1:c.77-21_77-17delinsCCTTT NP_001195.2:n.77-21_77-17delinsCCTTT
XM_011511687.1:c.77-21_77-17delinsCCTTT XP_011509989.1:n.77-21_77-17delinsCCTTT
XM_011511688.1:c.77-21_77-17delinsCCTTT XP_011509990.1:n.77-21_77-17delinsCCTTT
NM_001204.7:c.77-21_77-17delinsCCTTT MANE Select NP_001195.2:n.77-21_77-17delinsCCTTT