Canonical Allele Identifier: CA1321545859
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1688058475

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202533135_202533139del , CM000664.2:g.202533135_202533139del GRCh38
NC_000002.11:g.203397858_203397862del , CM000664.1:g.203397858_203397862del GRCh37
NC_000002.10:g.203106103_203106107del NCBI36
NG_009363.1:g.161809_161813del , LRG_712:g.161809_161813del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1276+403_1276+407del MANE Select ENSP00000363708.4:n.1276+403_1276+407del
ENST00000638587.1:c.1207+403_1207+407del ENSP00000491062.1:n.1207+403_1207+407del
ENST00000374574.2:c.1276+403_1276+407del ENSP00000363702.2:n.1276+403_1276+407del
ENST00000374580.8:c.1276+403_1276+407del ENSP00000363708.4:n.1276+403_1276+407del
NM_001204.6:c.1276+403_1276+407del , LRG_712t1:c.1276+403_1276+407del NP_001195.2:n.1276+403_1276+407del
XM_011511687.1:c.1276+403_1276+407del XP_011509989.1:n.1276+403_1276+407del
XM_011511688.1:c.1276+403_1276+407del XP_011509990.1:n.1276+403_1276+407del
NM_001204.7:c.1276+403_1276+407del MANE Select NP_001195.2:n.1276+403_1276+407del