Canonical Allele Identifier: CA916754408
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1574494777

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532885_202532887del , CM000664.2:g.202532885_202532887del GRCh38
NC_000002.11:g.203397608_203397610del , CM000664.1:g.203397608_203397610del GRCh37
NC_000002.10:g.203105853_203105855del NCBI36
NG_009363.1:g.161559_161561del , LRG_712:g.161559_161561del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1276+153_1276+155del MANE Select ENSP00000363708.4:n.1276+153_1276+155del
ENST00000638587.1:c.1207+153_1207+155del ENSP00000491062.1:n.1207+153_1207+155del
ENST00000374574.2:c.1276+153_1276+155del ENSP00000363702.2:n.1276+153_1276+155del
ENST00000374580.8:c.1276+153_1276+155del ENSP00000363708.4:n.1276+153_1276+155del
NM_001204.6:c.1276+153_1276+155del , LRG_712t1:c.1276+153_1276+155del NP_001195.2:n.1276+153_1276+155del
XM_011511687.1:c.1276+153_1276+155del XP_011509989.1:n.1276+153_1276+155del
XM_011511688.1:c.1276+153_1276+155del XP_011509990.1:n.1276+153_1276+155del
NM_001204.7:c.1276+153_1276+155del MANE Select NP_001195.2:n.1276+153_1276+155del