Canonical Allele Identifier: CA916754380
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1574493923

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202531140_202531159dup , CM000664.2:g.202531140_202531159dup GRCh38
NC_000002.11:g.203395863_203395882dup , CM000664.1:g.203395863_203395882dup GRCh37
NC_000002.10:g.203104108_203104127dup NCBI36
NG_009363.1:g.159814_159833dup , LRG_712:g.159814_159833dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1128+186_1128+205dup MANE Select ENSP00000363708.4:n.1128+186_1128+205dup
ENST00000638587.1:c.1059+186_1059+205dup ENSP00000491062.1:n.1059+186_1059+205dup
ENST00000374574.2:c.1128+186_1128+205dup ENSP00000363702.2:n.1128+186_1128+205dup
ENST00000374580.8:c.1128+186_1128+205dup ENSP00000363708.4:n.1128+186_1128+205dup
NM_001204.6:c.1128+186_1128+205dup , LRG_712t1:c.1128+186_1128+205dup NP_001195.2:n.1128+186_1128+205dup
XM_011511687.1:c.1128+186_1128+205dup XP_011509989.1:n.1128+186_1128+205dup
XM_011511688.1:c.1128+186_1128+205dup XP_011509990.1:n.1128+186_1128+205dup
NM_001204.7:c.1128+186_1128+205dup MANE Select NP_001195.2:n.1128+186_1128+205dup