Canonical Allele Identifier: CA1321550589
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542309_202542310delinsAG , CM000664.2:g.202542309_202542310delinsAG GRCh38
NC_000002.11:g.203407032_203407033delinsAG , CM000664.1:g.203407032_203407033delinsAG GRCh37
NC_000002.10:g.203115277_203115278delinsAG NCBI36
NG_009363.1:g.170983_170984delinsAG , LRG_712:g.170983_170984delinsAG

Transcript Alleles

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