Canonical Allele Identifier: CA1321545051
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202531148_202531149delinsCA , CM000664.2:g.202531148_202531149delinsCA GRCh38
NC_000002.11:g.203395871_203395872delinsCA , CM000664.1:g.203395871_203395872delinsCA GRCh37
NC_000002.10:g.203104116_203104117delinsCA NCBI36
NG_009363.1:g.159822_159823delinsCA , LRG_712:g.159822_159823delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1128+194_1128+195delinsCA MANE Select ENSP00000363708.4:n.1128+194_1128+195delinsCA
ENST00000638587.1:c.1059+194_1059+195delinsCA ENSP00000491062.1:n.1059+194_1059+195delinsCA
ENST00000374574.2:c.1128+194_1128+195delinsCA ENSP00000363702.2:n.1128+194_1128+195delinsCA
ENST00000374580.8:c.1128+194_1128+195delinsCA ENSP00000363708.4:n.1128+194_1128+195delinsCA
NM_001204.6:c.1128+194_1128+195delinsCA , LRG_712t1:c.1128+194_1128+195delinsCA NP_001195.2:n.1128+194_1128+195delinsCA
XM_011511687.1:c.1128+194_1128+195delinsCA XP_011509989.1:n.1128+194_1128+195delinsCA
XM_011511688.1:c.1128+194_1128+195delinsCA XP_011509990.1:n.1128+194_1128+195delinsCA
NM_001204.7:c.1128+194_1128+195delinsCA MANE Select NP_001195.2:n.1128+194_1128+195delinsCA
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