Canonical Allele Identifier: CA763434657
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1484933220
MyVariant Identifiers: chr2:g.203397282_203397283insA (hg19) chr2:g.202532559_202532560insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532565dup , CM000664.2:g.202532565dup GRCh38
NC_000002.11:g.203397288dup , CM000664.1:g.203397288dup GRCh37
NC_000002.10:g.203105533dup NCBI36
NG_009363.1:g.161239dup , LRG_712:g.161239dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1129-20dup MANE Select ENSP00000363708.4:n.1129-20dup
ENST00000638587.1:c.1060-20dup ENSP00000491062.1:n.1060-20dup
ENST00000374574.2:c.1129-20dup ENSP00000363702.2:n.1129-20dup
ENST00000374580.8:c.1129-20dup ENSP00000363708.4:n.1129-20dup
NM_001204.6:c.1129-20dup , LRG_712t1:c.1129-20dup NP_001195.2:n.1129-20dup
XM_011511687.1:c.1129-20dup XP_011509989.1:n.1129-20dup
XM_011511688.1:c.1129-20dup XP_011509990.1:n.1129-20dup
NM_001204.7:c.1129-20dup MANE Select NP_001195.2:n.1129-20dup
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