Canonical Allele Identifier: CA350348651
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203420862A>T (hg19) chr2:g.202556139A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556139A>T , CM000664.2:g.202556139A>T GRCh38
NC_000002.11:g.203420862A>T , CM000664.1:g.203420862A>T GRCh37
NC_000002.10:g.203129107A>T NCBI36
NG_009363.1:g.184813A>T , LRG_712:g.184813A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2474A>T MANE Select ENSP00000363708.4:p.Tyr825Phe
ENST00000638587.1:c.2405A>T ENSP00000491062.1:n.2405A>T
ENST00000374574.2:c.1586+3251A>T ENSP00000363702.2:n.1586+3251A>T
ENST00000374580.8:c.2474A>T ENSP00000363708.4:p.Tyr825Phe
NM_001204.6:c.2474A>T , LRG_712t1:c.2474A>T NP_001195.2:p.Tyr825Phe
XM_011511687.1:c.2474A>T XP_011509989.1:p.Tyr825Phe
XM_011511688.1:c.1586+3251A>T XP_011509990.1:n.1586+3251A>T
NM_001204.7:c.2474A>T MANE Select NP_001195.2:p.Tyr825Phe
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