Canonical Allele Identifier: CA430905142
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203420656T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555933T>A , CM000664.2:g.202555933T>A GRCh38
NC_000002.11:g.203420656T>A , CM000664.1:g.203420656T>A GRCh37
NC_000002.10:g.203128901T>A NCBI36
NG_009363.1:g.184607T>A , LRG_712:g.184607T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2268T>A MANE Select ENSP00000363708.4:p.Thr756=
ENST00000638587.1:c.2199T>A ENSP00000491062.1:n.2199T>A
ENST00000374574.2:c.1586+3045T>A ENSP00000363702.2:n.1586+3045T>A
ENST00000374580.8:c.2268T>A ENSP00000363708.4:p.Thr756=
NM_001204.6:c.2268T>A , LRG_712t1:c.2268T>A NP_001195.2:p.Thr756=
XM_011511687.1:c.2268T>A XP_011509989.1:p.Thr756=
XM_011511688.1:c.1586+3045T>A XP_011509990.1:n.1586+3045T>A
NM_001204.7:c.2268T>A MANE Select NP_001195.2:p.Thr756=
Search 100 bp 5'
Search 100 bp 3'