Canonical Allele Identifier: CA538975622
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1392519458
gnomAD v2: 2-203397287-AAT-A
gnomAD v4: 2-202532564-AAT-A
MyVariant Identifiers: chr2:g.203397288_203397289del (hg19) chr2:g.202532565_202532566del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532567_202532568del , CM000664.2:g.202532567_202532568del GRCh38
NC_000002.11:g.203397290_203397291del , CM000664.1:g.203397290_203397291del GRCh37
NC_000002.10:g.203105535_203105536del NCBI36
NG_009363.1:g.161241_161242del , LRG_712:g.161241_161242del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1129-18_1129-17del MANE Select ENSP00000363708.4:n.1129-18_1129-17del
ENST00000638587.1:c.1060-18_1060-17del ENSP00000491062.1:n.1060-18_1060-17del
ENST00000374574.2:c.1129-18_1129-17del ENSP00000363702.2:n.1129-18_1129-17del
ENST00000374580.8:c.1129-18_1129-17del ENSP00000363708.4:n.1129-18_1129-17del
NM_001204.6:c.1129-18_1129-17del , LRG_712t1:c.1129-18_1129-17del NP_001195.2:n.1129-18_1129-17del
XM_011511687.1:c.1129-18_1129-17del XP_011509989.1:n.1129-18_1129-17del
XM_011511688.1:c.1129-18_1129-17del XP_011509990.1:n.1129-18_1129-17del
NM_001204.7:c.1129-18_1129-17del MANE Select NP_001195.2:n.1129-18_1129-17del
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