Canonical Allele Identifier: CA2586970996
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377555G>T , CM000664.2:g.202377555G>T GRCh38
NC_000002.11:g.203242278G>T , CM000664.1:g.203242278G>T GRCh37
NC_000002.10:g.202950523G>T NCBI36
NG_009363.1:g.6229G>T , LRG_712:g.6229G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.76+5G>T MANE Select ENSP00000363708.4:n.76+5G>T
ENST00000374574.2:c.76+5G>T ENSP00000363702.2:n.76+5G>T
ENST00000374580.8:c.76+5G>T ENSP00000363708.4:n.76+5G>T
NM_001204.6:c.76+5G>T , LRG_712t1:c.76+5G>T NP_001195.2:n.76+5G>T
XM_011511687.1:c.76+5G>T XP_011509989.1:n.76+5G>T
XM_011511688.1:c.76+5G>T XP_011509990.1:n.76+5G>T
NM_001204.7:c.76+5G>T MANE Select NP_001195.2:n.76+5G>T
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