Canonical Allele Identifier: CA763433214
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1297099453
gnomAD v3: 2-202530573-GTTAGTT-G
gnomAD v4: 2-202530573-GTTAGTT-G
MyVariant Identifiers: chr2:g.203395297_203395302del (hg19) chr2:g.202530574_202530579del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530580_202530585del , CM000664.2:g.202530580_202530585del GRCh38
NC_000002.11:g.203395303_203395308del , CM000664.1:g.203395303_203395308del GRCh37
NC_000002.10:g.203103548_203103553del NCBI36
NG_009363.1:g.159254_159259del , LRG_712:g.159254_159259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.968-214_968-209del MANE Select ENSP00000363708.4:n.968-214_968-209del
ENST00000638587.1:c.899-214_899-209del ENSP00000491062.1:n.899-214_899-209del
ENST00000374574.2:c.968-214_968-209del ENSP00000363702.2:n.968-214_968-209del
ENST00000374580.8:c.968-214_968-209del ENSP00000363708.4:n.968-214_968-209del
NM_001204.6:c.968-214_968-209del , LRG_712t1:c.968-214_968-209del NP_001195.2:n.968-214_968-209del
XM_011511687.1:c.968-214_968-209del XP_011509989.1:n.968-214_968-209del
XM_011511688.1:c.968-214_968-209del XP_011509990.1:n.968-214_968-209del
NM_001204.7:c.968-214_968-209del MANE Select NP_001195.2:n.968-214_968-209del
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