Canonical Allele Identifier: CA1321540404
Gene: BMPR2 HGNC NCBI
RPL13AP12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520627C= , CM000664.2:g.202520627C= GRCh38
NC_000002.11:g.203385350C= , CM000664.1:g.203385350C= GRCh37
NC_000002.10:g.203093595C= NCBI36
NG_009363.1:g.149301C= , LRG_712:g.149301C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.967+426C= (BMPR2) MANE Select ENSP00000363708.4:n.967+426C=
ENST00000638587.1:c.898+426C= (BMPR2) ENSP00000491062.1:n.898+426C=
ENST00000374574.2:c.967+426C= (BMPR2) ENSP00000363702.2:n.967+426C=
ENST00000374580.8:c.967+426C= (BMPR2) ENSP00000363708.4:n.967+426C=
ENST00000435125.1:n.227C= (RPL13AP12)
NM_001204.6:c.967+426C= , LRG_712t1:c.967+426C= (BMPR2) NP_001195.2:n.967+426C=
XM_011511687.1:c.967+426C= (BMPR2) XP_011509989.1:n.967+426C=
XM_011511688.1:c.967+426C= (BMPR2) XP_011509990.1:n.967+426C=
NM_001204.7:c.967+426C= (BMPR2) MANE Select NP_001195.2:n.967+426C=
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