Canonical Allele Identifier: CA2061171
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs771257949
ExAC: 2:203383514 TA / T
gnomAD v2: 2-203383514-TA-T
gnomAD v4: 2-202518791-TA-T
MyVariant Identifiers: chr2:g.203383515del (hg19) chr2:g.202518792del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518793del , CM000664.2:g.202518793del GRCh38
NC_000002.11:g.203383516del , CM000664.1:g.203383516del GRCh37
NC_000002.10:g.203091761del NCBI36
NG_009363.1:g.147467del , LRG_712:g.147467del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.622-29del MANE Select ENSP00000363708.4:n.622-29del
ENST00000638587.1:c.553-29del ENSP00000491062.1:n.553-29del
ENST00000374574.2:c.622-29del ENSP00000363702.2:n.622-29del
ENST00000374580.8:c.622-29del ENSP00000363708.4:n.622-29del
NM_001204.6:c.622-29del , LRG_712t1:c.622-29del NP_001195.2:n.622-29del
XM_011511687.1:c.622-29del XP_011509989.1:n.622-29del
XM_011511688.1:c.622-29del XP_011509990.1:n.622-29del
NM_001204.7:c.622-29del MANE Select NP_001195.2:n.622-29del
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