Canonical Allele Identifier: CA763450362
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1488732813
gnomAD v3: 2-202552542-TCA-T
gnomAD v4: 2-202552542-TCA-T
MyVariant Identifiers: chr2:g.203417266_203417267del (hg19) chr2:g.202552543_202552544del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552543_202552544del , CM000664.2:g.202552543_202552544del GRCh38
NC_000002.11:g.203417266_203417267del , CM000664.1:g.203417266_203417267del GRCh37
NC_000002.10:g.203125511_203125512del NCBI36
NG_009363.1:g.181217_181218del , LRG_712:g.181217_181218del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1414-173_1414-172del MANE Select ENSP00000363708.4:n.1414-173_1414-172del
ENST00000638587.1:c.1345-173_1345-172del ENSP00000491062.1:n.1345-173_1345-172del
ENST00000374574.2:c.1414-173_1414-172del ENSP00000363702.2:n.1414-173_1414-172del
ENST00000374580.8:c.1414-173_1414-172del ENSP00000363708.4:n.1414-173_1414-172del
NM_001204.6:c.1414-173_1414-172del , LRG_712t1:c.1414-173_1414-172del NP_001195.2:n.1414-173_1414-172del
XM_011511687.1:c.1414-173_1414-172del XP_011509989.1:n.1414-173_1414-172del
XM_011511688.1:c.1414-173_1414-172del XP_011509990.1:n.1414-173_1414-172del
NM_001204.7:c.1414-173_1414-172del MANE Select NP_001195.2:n.1414-173_1414-172del
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