Canonical Allele Identifier: CA430859716
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203417486T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552763T>C , CM000664.2:g.202552763T>C GRCh38
NC_000002.11:g.203417486T>C , CM000664.1:g.203417486T>C GRCh37
NC_000002.10:g.203125731T>C NCBI36
NG_009363.1:g.181437T>C , LRG_712:g.181437T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1461T>C MANE Select ENSP00000363708.4:p.Asp487=
ENST00000638587.1:c.1392T>C ENSP00000491062.1:p.Asp464=
ENST00000374574.2:c.1461T>C ENSP00000363702.2:p.Asp487=
ENST00000374580.8:c.1461T>C ENSP00000363708.4:p.Asp487=
NM_001204.6:c.1461T>C , LRG_712t1:c.1461T>C NP_001195.2:p.Asp487=
XM_011511687.1:c.1461T>C XP_011509989.1:p.Asp487=
XM_011511688.1:c.1461T>C XP_011509990.1:p.Asp487=
NM_001204.7:c.1461T>C MANE Select NP_001195.2:p.Asp487=
Search 100 bp 5'
Search 100 bp 3'