Canonical Allele Identifier: CA2061266
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs751559192
ExAC: 2:203395496 TATTTGAAATTATCCAAAC / T
gnomAD v2: 2-203395496-TATTTGAAATTATCCAAAC-T
gnomAD v3: 2-202530773-TATTTGAAATTATCCAAAC-T
gnomAD v4: 2-202530773-TATTTGAAATTATCCAAAC-T
MyVariant Identifiers: chr2:g.203395497_203395514del (hg19) chr2:g.202530774_202530791del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530775_202530792del , CM000664.2:g.202530775_202530792del GRCh38
NC_000002.11:g.203395498_203395515del , CM000664.1:g.203395498_203395515del GRCh37
NC_000002.10:g.203103743_203103760del NCBI36
NG_009363.1:g.159449_159466del , LRG_712:g.159449_159466del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.968-19_968-2del MANE Select ENSP00000363708.4:n.968-19_968-2del
ENST00000638587.1:c.899-19_899-2del ENSP00000491062.1:n.899-19_899-2del
ENST00000374574.2:c.968-19_968-2del ENSP00000363702.2:n.968-19_968-2del
ENST00000374580.8:c.968-19_968-2del ENSP00000363708.4:n.968-19_968-2del
NM_001204.6:c.968-19_968-2del , LRG_712t1:c.968-19_968-2del NP_001195.2:n.968-19_968-2del
XM_011511687.1:c.968-19_968-2del XP_011509989.1:n.968-19_968-2del
XM_011511688.1:c.968-19_968-2del XP_011509990.1:n.968-19_968-2del
NM_001204.7:c.968-19_968-2del MANE Select NP_001195.2:n.968-19_968-2del
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