Canonical Allele Identifier: CA1321539605
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518759_202518760delinsAT , CM000664.2:g.202518759_202518760delinsAT GRCh38
NC_000002.11:g.203383482_203383483delinsAT , CM000664.1:g.203383482_203383483delinsAT GRCh37
NC_000002.10:g.203091727_203091728delinsAT NCBI36
NG_009363.1:g.147433_147434delinsAT , LRG_712:g.147433_147434delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.622-63_622-62delinsAT MANE Select ENSP00000363708.4:n.622-63_622-62delinsAT
ENST00000638587.1:c.553-63_553-62delinsAT ENSP00000491062.1:n.553-63_553-62delinsAT
ENST00000374574.2:c.622-63_622-62delinsAT ENSP00000363702.2:n.622-63_622-62delinsAT
ENST00000374580.8:c.622-63_622-62delinsAT ENSP00000363708.4:n.622-63_622-62delinsAT
NM_001204.6:c.622-63_622-62delinsAT , LRG_712t1:c.622-63_622-62delinsAT NP_001195.2:n.622-63_622-62delinsAT
XM_011511687.1:c.622-63_622-62delinsAT XP_011509989.1:n.622-63_622-62delinsAT
XM_011511688.1:c.622-63_622-62delinsAT XP_011509990.1:n.622-63_622-62delinsAT
NM_001204.7:c.622-63_622-62delinsAT MANE Select NP_001195.2:n.622-63_622-62delinsAT