Canonical Allele Identifier: CA763419170
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1201959509
MyVariant Identifiers: chr2:g.203242390del (hg19) chr2:g.202377667del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377667del , CM000664.2:g.202377667del GRCh38
NC_000002.11:g.203242390del , CM000664.1:g.203242390del GRCh37
NC_000002.10:g.202950635del NCBI36
NG_009363.1:g.6341del , LRG_712:g.6341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.76+117del MANE Select ENSP00000363708.4:n.76+117del
ENST00000374574.2:c.76+117del ENSP00000363702.2:n.76+117del
ENST00000374580.8:c.76+117del ENSP00000363708.4:n.76+117del
NM_001204.6:c.76+117del , LRG_712t1:c.76+117del NP_001195.2:n.76+117del
XM_011511687.1:c.76+117del XP_011509989.1:n.76+117del
XM_011511688.1:c.76+117del XP_011509990.1:n.76+117del
NM_001204.7:c.76+117del MANE Select NP_001195.2:n.76+117del
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