Canonical Allele Identifier: CA430892841
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1370211766
gnomAD v2: 2-203242173-CT-C
gnomAD v3: 2-202377450-CT-C
gnomAD v4: 2-202377450-CT-C
MyVariant Identifiers: chr2:g.203242174del (hg19) chr2:g.202377451del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377451del , CM000664.2:g.202377451del GRCh38
NC_000002.11:g.203242174del , CM000664.1:g.203242174del GRCh37
NC_000002.10:g.202950419del NCBI36
NG_009363.1:g.6125del , LRG_712:g.6125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-24del MANE Select ENSP00000363708.4:n.-24del
ENST00000374574.2:c.-24del ENSP00000363702.2:n.-24del
ENST00000374580.8:c.-24del ENSP00000363708.4:n.-24del
NM_001204.6:c.-24del , LRG_712t1:c.-24del NP_001195.2:n.-24del
XM_011511687.1:c.-24del XP_011509989.1:n.-24del
XM_011511688.1:c.-24del XP_011509990.1:n.-24del
NM_001204.7:c.-24del MANE Select NP_001195.2:n.-24del
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