Canonical Allele Identifier: CA10587993
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 264651
ClinVar RCV Id: RCV000249808
dbSNP Id: rs886039220
MyVariant Identifiers: chr2:g.203407024_203407025insGGG (hg19) chr2:g.202542301_202542302insGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542301_202542302insGGG , CM000664.2:g.202542301_202542302insGGG GRCh38
NC_000002.11:g.203407024_203407025insGGG , CM000664.1:g.203407024_203407025insGGG GRCh37
NC_000002.10:g.203115269_203115270insGGG NCBI36
NG_009363.1:g.170975_170976insGGG , LRG_712:g.170975_170976insGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1277-10_1277-9insGGG MANE Select ENSP00000363708.4:n.1277-10_1277-9insGGG
ENST00000638587.1:c.1208-10_1208-9insGGG ENSP00000491062.1:n.1208-10_1208-9insGGG
ENST00000374574.2:c.1277-10_1277-9insGGG ENSP00000363702.2:n.1277-10_1277-9insGGG
ENST00000374580.8:c.1277-10_1277-9insGGG ENSP00000363708.4:n.1277-10_1277-9insGGG
NM_001204.6:c.1277-10_1277-9insGGG , LRG_712t1:c.1277-10_1277-9insGGG NP_001195.2:n.1277-10_1277-9insGGG
XM_011511687.1:c.1277-10_1277-9insGGG XP_011509989.1:n.1277-10_1277-9insGGG
XM_011511688.1:c.1277-10_1277-9insGGG XP_011509990.1:n.1277-10_1277-9insGGG
NM_001204.7:c.1277-10_1277-9insGGG MANE Select NP_001195.2:n.1277-10_1277-9insGGG
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