Canonical Allele Identifier: CA1321474885
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377869_202377870delinsAC , CM000664.2:g.202377869_202377870delinsAC GRCh38
NC_000002.11:g.203242592_203242593delinsAC , CM000664.1:g.203242592_203242593delinsAC GRCh37
NC_000002.10:g.202950837_202950838delinsAC NCBI36
NG_009363.1:g.6543_6544delinsAC , LRG_712:g.6543_6544delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.76+319_76+320delinsAC MANE Select ENSP00000363708.4:n.76+319_76+320delinsAC
ENST00000374574.2:c.76+319_76+320delinsAC ENSP00000363702.2:n.76+319_76+320delinsAC
ENST00000374580.8:c.76+319_76+320delinsAC ENSP00000363708.4:n.76+319_76+320delinsAC
NM_001204.6:c.76+319_76+320delinsAC , LRG_712t1:c.76+319_76+320delinsAC NP_001195.2:n.76+319_76+320delinsAC
XM_011511687.1:c.76+319_76+320delinsAC XP_011509989.1:n.76+319_76+320delinsAC
XM_011511688.1:c.76+319_76+320delinsAC XP_011509990.1:n.76+319_76+320delinsAC
NM_001204.7:c.76+319_76+320delinsAC MANE Select NP_001195.2:n.76+319_76+320delinsAC