Canonical Allele Identifier: CA2753907247
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556134_202556135insAACCCCCCAAACACACCCAACA , CM000664.2:g.202556134_202556135insAACCCCCCAAACACACCCAACA GRCh38
NC_000002.11:g.203420857_203420858insAACCCCCCAAACACACCCAACA , CM000664.1:g.203420857_203420858insAACCCCCCAAACACACCCAACA GRCh37
NC_000002.10:g.203129102_203129103insAACCCCCCAAACACACCCAACA NCBI36
NG_009363.1:g.184808_184809insAACCCCCCAAACACACCCAACA , LRG_712:g.184808_184809insAACCCCCCAAACACACCCAACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2469_2470insAACCCCCCAAACACACCCAACA MANE Select ENSP00000363708.4:p.Gln824AsnfsTer26
ENST00000638587.1:c.2400_2401insAACCCCCCAAACACACCCAACA ENSP00000491062.1:n.2400_2401insAACCCCCCAAACACACCCAACA
ENST00000374574.2:c.1586+3246_1586+3247insAACCCCCCAAACACACCCAACA ENSP00000363702.2:n.1586+3246_1586+3247insAACCCCCCAAACACACCCA...
ENST00000374580.8:c.2469_2470insAACCCCCCAAACACACCCAACA ENSP00000363708.4:p.Gln824AsnfsTer26
NM_001204.6:c.2469_2470insAACCCCCCAAACACACCCAACA , LRG_712t1:c.2469_2470insAACCCCCCAAACACACCCAACA NP_001195.2:p.Gln824AsnfsTer26
XM_011511687.1:c.2469_2470insAACCCCCCAAACACACCCAACA XP_011509989.1:p.Gln824AsnfsTer26
XM_011511688.1:c.1586+3246_1586+3247insAACCCCCCAAACACACCCAACA XP_011509990.1:n.1586+3246_1586+3247insAACCCCCCAAACACACCCAACA...
NM_001204.7:c.2469_2470insAACCCCCCAAACACACCCAACA MANE Select NP_001195.2:p.Gln824AsnfsTer26
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