Canonical Allele Identifier: CA763434630
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1160835379
MyVariant Identifiers: chr2:g.203397244_203397261del (hg19) chr2:g.202532521_202532538del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532521_202532538del , CM000664.2:g.202532521_202532538del GRCh38
NC_000002.11:g.203397244_203397261del , CM000664.1:g.203397244_203397261del GRCh37
NC_000002.10:g.203105489_203105506del NCBI36
NG_009363.1:g.161195_161212del , LRG_712:g.161195_161212del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1129-64_1129-47del MANE Select ENSP00000363708.4:n.1129-64_1129-47del
ENST00000638587.1:c.1060-64_1060-47del ENSP00000491062.1:n.1060-64_1060-47del
ENST00000374574.2:c.1129-64_1129-47del ENSP00000363702.2:n.1129-64_1129-47del
ENST00000374580.8:c.1129-64_1129-47del ENSP00000363708.4:n.1129-64_1129-47del
NM_001204.6:c.1129-64_1129-47del , LRG_712t1:c.1129-64_1129-47del NP_001195.2:n.1129-64_1129-47del
XM_011511687.1:c.1129-64_1129-47del XP_011509989.1:n.1129-64_1129-47del
XM_011511688.1:c.1129-64_1129-47del XP_011509990.1:n.1129-64_1129-47del
NM_001204.7:c.1129-64_1129-47del MANE Select NP_001195.2:n.1129-64_1129-47del
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