Canonical Allele Identifier: CA1321539761
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519076_202519078delinsCTG , CM000664.2:g.202519076_202519078delinsCTG GRCh38
NC_000002.11:g.203383799_203383801delinsCTG , CM000664.1:g.203383799_203383801delinsCTG GRCh37
NC_000002.10:g.203092044_203092046delinsCTG NCBI36
NG_009363.1:g.147750_147752delinsCTG , LRG_712:g.147750_147752delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.852+24_852+26delinsCTG MANE Select ENSP00000363708.4:n.852+24_852+26delinsCTG
ENST00000638587.1:c.783+24_783+26delinsCTG ENSP00000491062.1:n.783+24_783+26delinsCTG
ENST00000374574.2:c.852+24_852+26delinsCTG ENSP00000363702.2:n.852+24_852+26delinsCTG
ENST00000374580.8:c.852+24_852+26delinsCTG ENSP00000363708.4:n.852+24_852+26delinsCTG
NM_001204.6:c.852+24_852+26delinsCTG , LRG_712t1:c.852+24_852+26delinsCTG NP_001195.2:n.852+24_852+26delinsCTG
XM_011511687.1:c.852+24_852+26delinsCTG XP_011509989.1:n.852+24_852+26delinsCTG
XM_011511688.1:c.852+24_852+26delinsCTG XP_011509990.1:n.852+24_852+26delinsCTG
NM_001204.7:c.852+24_852+26delinsCTG MANE Select NP_001195.2:n.852+24_852+26delinsCTG
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