Canonical Allele Identifier: CA1321556360
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1688501796

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552702_202552704del , CM000664.2:g.202552702_202552704del GRCh38
NC_000002.11:g.203417425_203417427del , CM000664.1:g.203417425_203417427del GRCh37
NC_000002.10:g.203125670_203125672del NCBI36
NG_009363.1:g.181376_181378del , LRG_712:g.181376_181378del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1414-14_1414-12del MANE Select ENSP00000363708.4:n.1414-14_1414-12del
ENST00000638587.1:c.1345-14_1345-12del ENSP00000491062.1:n.1345-14_1345-12del
ENST00000374574.2:c.1414-14_1414-12del ENSP00000363702.2:n.1414-14_1414-12del
ENST00000374580.8:c.1414-14_1414-12del ENSP00000363708.4:n.1414-14_1414-12del
NM_001204.6:c.1414-14_1414-12del , LRG_712t1:c.1414-14_1414-12del NP_001195.2:n.1414-14_1414-12del
XM_011511687.1:c.1414-14_1414-12del XP_011509989.1:n.1414-14_1414-12del
XM_011511688.1:c.1414-14_1414-12del XP_011509990.1:n.1414-14_1414-12del
NM_001204.7:c.1414-14_1414-12del MANE Select NP_001195.2:n.1414-14_1414-12del