Canonical Allele Identifier: CA1321550392
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202541949_202541950delinsTA , CM000664.2:g.202541949_202541950delinsTA GRCh38
NC_000002.11:g.203406672_203406673delinsTA , CM000664.1:g.203406672_203406673delinsTA GRCh37
NC_000002.10:g.203114917_203114918delinsTA NCBI36
NG_009363.1:g.170623_170624delinsTA , LRG_712:g.170623_170624delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1277-362_1277-361delinsTA MANE Select ENSP00000363708.4:n.1277-362_1277-361delinsTA
ENST00000638587.1:c.1208-362_1208-361delinsTA ENSP00000491062.1:n.1208-362_1208-361delinsTA
ENST00000374574.2:c.1277-362_1277-361delinsTA ENSP00000363702.2:n.1277-362_1277-361delinsTA
ENST00000374580.8:c.1277-362_1277-361delinsTA ENSP00000363708.4:n.1277-362_1277-361delinsTA
NM_001204.6:c.1277-362_1277-361delinsTA , LRG_712t1:c.1277-362_1277-361delinsTA NP_001195.2:n.1277-362_1277-361delinsTA
XM_011511687.1:c.1277-362_1277-361delinsTA XP_011509989.1:n.1277-362_1277-361delinsTA
XM_011511688.1:c.1277-362_1277-361delinsTA XP_011509990.1:n.1277-362_1277-361delinsTA
NM_001204.7:c.1277-362_1277-361delinsTA MANE Select NP_001195.2:n.1277-362_1277-361delinsTA