Canonical Allele Identifier: CA1321474550
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377292_202377311delinsTTCTGCAGCGGCATGAAAGC , CM000664.2:g.202377292_202377311delinsTTCTGCAGCGGCATGAAAGC GRCh38
NC_000002.11:g.203242015_203242034delinsTTCTGCAGCGGCATGAAAGC , CM000664.1:g.203242015_203242034delinsTTCTGCAGCGGCATGAAAGC GRCh37
NC_000002.10:g.202950260_202950279delinsTTCTGCAGCGGCATGAAAGC NCBI36
NG_009363.1:g.5966_5985delinsTTCTGCAGCGGCATGAAAGC , LRG_712:g.5966_5985delinsTTCTGCAGCGGCATGAAAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-183_-164delinsTTCTGCAGCGGCATGAAAGC MANE Select ENSP00000363708.4:n.-183_-164delinsTTCTGCAGCGGCATGAAAGC
ENST00000374580.8:c.-183_-164delinsTTCTGCAGCGGCATGAAAGC ENSP00000363708.4:n.-183_-164delinsTTCTGCAGCGGCATGAAAGC
NM_001204.6:c.-183_-164delinsTTCTGCAGCGGCATGAAAGC , LRG_712t1:c.-183_-164delinsTTCTGCAGCGGCATGAAAGC NP_001195.2:n.-183_-164delinsTTCTGCAGCGGCATGAAAGC
XM_011511687.1:c.-183_-164delinsTTCTGCAGCGGCATGAAAGC XP_011509989.1:n.-183_-164delinsTTCTGCAGCGGCATGAAAGC
XM_011511688.1:c.-183_-164delinsTTCTGCAGCGGCATGAAAGC XP_011509990.1:n.-183_-164delinsTTCTGCAGCGGCATGAAAGC
NM_001204.7:c.-183_-164delinsTTCTGCAGCGGCATGAAAGC MANE Select NP_001195.2:n.-183_-164delinsTTCTGCAGCGGCATGAAAGC