Canonical Allele Identifier: CA1321539625
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518791_202518792delinsTA , CM000664.2:g.202518791_202518792delinsTA GRCh38
NC_000002.11:g.203383514_203383515delinsTA , CM000664.1:g.203383514_203383515delinsTA GRCh37
NC_000002.10:g.203091759_203091760delinsTA NCBI36
NG_009363.1:g.147465_147466delinsTA , LRG_712:g.147465_147466delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.622-31_622-30delinsTA MANE Select ENSP00000363708.4:n.622-31_622-30delinsTA
ENST00000638587.1:c.553-31_553-30delinsTA ENSP00000491062.1:n.553-31_553-30delinsTA
ENST00000374574.2:c.622-31_622-30delinsTA ENSP00000363702.2:n.622-31_622-30delinsTA
ENST00000374580.8:c.622-31_622-30delinsTA ENSP00000363708.4:n.622-31_622-30delinsTA
NM_001204.6:c.622-31_622-30delinsTA , LRG_712t1:c.622-31_622-30delinsTA NP_001195.2:n.622-31_622-30delinsTA
XM_011511687.1:c.622-31_622-30delinsTA XP_011509989.1:n.622-31_622-30delinsTA
XM_011511688.1:c.622-31_622-30delinsTA XP_011509990.1:n.622-31_622-30delinsTA
NM_001204.7:c.622-31_622-30delinsTA MANE Select NP_001195.2:n.622-31_622-30delinsTA
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