Canonical Allele Identifier: CA1321544921
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530868_202530869delinsGT , CM000664.2:g.202530868_202530869delinsGT GRCh38
NC_000002.11:g.203395591_203395592delinsGT , CM000664.1:g.203395591_203395592delinsGT GRCh37
NC_000002.10:g.203103836_203103837delinsGT NCBI36
NG_009363.1:g.159542_159543delinsGT , LRG_712:g.159542_159543delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1042_1043delinsGT MANE Select ENSP00000363708.4:p.Val348=
ENST00000638587.1:c.973_974delinsGT ENSP00000491062.1:p.Val325=
ENST00000374574.2:c.1042_1043delinsGT ENSP00000363702.2:p.Val348=
ENST00000374580.8:c.1042_1043delinsGT ENSP00000363708.4:p.Val348=
NM_001204.6:c.1042_1043delinsGT , LRG_712t1:c.1042_1043delinsGT NP_001195.2:p.Val348=
XM_011511687.1:c.1042_1043delinsGT XP_011509989.1:p.Val348=
XM_011511688.1:c.1042_1043delinsGT XP_011509990.1:p.Val348=
NM_001204.7:c.1042_1043delinsGT MANE Select NP_001195.2:p.Val348=
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