Canonical Allele Identifier: CA1321474882
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377860_202377861delinsAT , CM000664.2:g.202377860_202377861delinsAT GRCh38
NC_000002.11:g.203242583_203242584delinsAT , CM000664.1:g.203242583_203242584delinsAT GRCh37
NC_000002.10:g.202950828_202950829delinsAT NCBI36
NG_009363.1:g.6534_6535delinsAT , LRG_712:g.6534_6535delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.76+310_76+311delinsAT MANE Select ENSP00000363708.4:n.76+310_76+311delinsAT
ENST00000374574.2:c.76+310_76+311delinsAT ENSP00000363702.2:n.76+310_76+311delinsAT
ENST00000374580.8:c.76+310_76+311delinsAT ENSP00000363708.4:n.76+310_76+311delinsAT
NM_001204.6:c.76+310_76+311delinsAT , LRG_712t1:c.76+310_76+311delinsAT NP_001195.2:n.76+310_76+311delinsAT
XM_011511687.1:c.76+310_76+311delinsAT XP_011509989.1:n.76+310_76+311delinsAT
XM_011511688.1:c.76+310_76+311delinsAT XP_011509990.1:n.76+310_76+311delinsAT
NM_001204.7:c.76+310_76+311delinsAT MANE Select NP_001195.2:n.76+310_76+311delinsAT