Canonical Allele Identifier: CA2061300
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs777716107
ExAC: 2:203395727 T / TC
MyVariant Identifiers: chr2:g.203395727_203395728insC (hg19) chr2:g.202531004_202531005insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202531004_202531005insC , CM000664.2:g.202531004_202531005insC GRCh38
NC_000002.11:g.203395727_203395728insC , CM000664.1:g.203395727_203395728insC GRCh37
NC_000002.10:g.203103972_203103973insC NCBI36
NG_009363.1:g.159678_159679insC , LRG_712:g.159678_159679insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1128+50_1128+51insC MANE Select ENSP00000363708.4:n.1128+50_1128+51insC
ENST00000638587.1:c.1059+50_1059+51insC ENSP00000491062.1:n.1059+50_1059+51insC
ENST00000374574.2:c.1128+50_1128+51insC ENSP00000363702.2:n.1128+50_1128+51insC
ENST00000374580.8:c.1128+50_1128+51insC ENSP00000363708.4:n.1128+50_1128+51insC
NM_001204.6:c.1128+50_1128+51insC , LRG_712t1:c.1128+50_1128+51insC NP_001195.2:n.1128+50_1128+51insC
XM_011511687.1:c.1128+50_1128+51insC XP_011509989.1:n.1128+50_1128+51insC
XM_011511688.1:c.1128+50_1128+51insC XP_011509990.1:n.1128+50_1128+51insC
NM_001204.7:c.1128+50_1128+51insC MANE Select NP_001195.2:n.1128+50_1128+51insC
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