Canonical Allele Identifier: CA1041346366
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1688003650
gnomAD v3: 2-202530603-G-GTTAATTA
gnomAD v4: 2-202530603-G-GTTAATTA
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530603_202530604insTTAATTA , CM000664.2:g.202530603_202530604insTTAATTA GRCh38
NC_000002.11:g.203395326_203395327insTTAATTA , CM000664.1:g.203395326_203395327insTTAATTA GRCh37
NC_000002.10:g.203103571_203103572insTTAATTA NCBI36
NG_009363.1:g.159277_159278insTTAATTA , LRG_712:g.159277_159278insTTAATTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.968-191_968-190insTTAATTA MANE Select ENSP00000363708.4:n.968-191_968-190insTTAATTA
ENST00000638587.1:c.899-191_899-190insTTAATTA ENSP00000491062.1:n.899-191_899-190insTTAATTA
ENST00000374574.2:c.968-191_968-190insTTAATTA ENSP00000363702.2:n.968-191_968-190insTTAATTA
ENST00000374580.8:c.968-191_968-190insTTAATTA ENSP00000363708.4:n.968-191_968-190insTTAATTA
NM_001204.6:c.968-191_968-190insTTAATTA , LRG_712t1:c.968-191_968-190insTTAATTA NP_001195.2:n.968-191_968-190insTTAATTA
XM_011511687.1:c.968-191_968-190insTTAATTA XP_011509989.1:n.968-191_968-190insTTAATTA
XM_011511688.1:c.968-191_968-190insTTAATTA XP_011509990.1:n.968-191_968-190insTTAATTA
NM_001204.7:c.968-191_968-190insTTAATTA MANE Select NP_001195.2:n.968-191_968-190insTTAATTA
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