Canonical Allele Identifier: CA1041321268
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1688049973
gnomAD v3: 2-202532652-CA-C
gnomAD v4: 2-202532652-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532653del , CM000664.2:g.202532653del GRCh38
NC_000002.11:g.203397376del , CM000664.1:g.203397376del GRCh37
NC_000002.10:g.203105621del NCBI36
NG_009363.1:g.161327del , LRG_712:g.161327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1197del MANE Select ENSP00000363708.4:p.Ala400LeufsTer2
ENST00000638587.1:c.1128del ENSP00000491062.1:p.Ala377LeufsTer2
ENST00000374574.2:c.1197del ENSP00000363702.2:p.Ala400LeufsTer2
ENST00000374580.8:c.1197del ENSP00000363708.4:p.Ala400LeufsTer2
NM_001204.6:c.1197del , LRG_712t1:c.1197del NP_001195.2:p.Ala400LeufsTer2
XM_011511687.1:c.1197del XP_011509989.1:p.Ala400LeufsTer2
XM_011511688.1:c.1197del XP_011509990.1:p.Ala400LeufsTer2
NM_001204.7:c.1197del MANE Select NP_001195.2:p.Ala400LeufsTer2
Search 100 bp 5'
Search 100 bp 3'