Canonical Allele Identifier: CA1321510298
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1692345769
gnomAD v4: 2-202467376-AAT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467379_202467380del , CM000664.2:g.202467379_202467380del GRCh38
NC_000002.11:g.203332102_203332103del , CM000664.1:g.203332102_203332103del GRCh37
NC_000002.10:g.203040347_203040348del NCBI36
NG_009363.1:g.96053_96054del , LRG_712:g.96053_96054del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.248-140_248-139del MANE Select ENSP00000363708.4:n.248-140_248-139del
ENST00000638587.1:c.179-140_179-139del ENSP00000491062.1:n.179-140_179-139del
ENST00000374574.2:c.248-140_248-139del ENSP00000363702.2:n.248-140_248-139del
ENST00000374580.8:c.248-140_248-139del ENSP00000363708.4:n.248-140_248-139del
ENST00000479069.1:n.155-140_155-139del
NM_001204.6:c.248-140_248-139del , LRG_712t1:c.248-140_248-139del NP_001195.2:n.248-140_248-139del
XM_011511687.1:c.248-140_248-139del XP_011509989.1:n.248-140_248-139del
XM_011511688.1:c.248-140_248-139del XP_011509990.1:n.248-140_248-139del
NM_001204.7:c.248-140_248-139del MANE Select NP_001195.2:n.248-140_248-139del
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