Canonical Allele Identifier: CA350342766
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203407050G>T (hg19) chr2:g.202542327G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542327G>T , CM000664.2:g.202542327G>T GRCh38
NC_000002.11:g.203407050G>T , CM000664.1:g.203407050G>T GRCh37
NC_000002.10:g.203115295G>T NCBI36
NG_009363.1:g.171001G>T , LRG_712:g.171001G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1293G>T MANE Select ENSP00000363708.4:p.Glu431Asp
ENST00000638587.1:c.1224G>T ENSP00000491062.1:p.Glu408Asp
ENST00000374574.2:c.1293G>T ENSP00000363702.2:p.Glu431Asp
ENST00000374580.8:c.1293G>T ENSP00000363708.4:p.Glu431Asp
NM_001204.6:c.1293G>T , LRG_712t1:c.1293G>T NP_001195.2:p.Glu431Asp
XM_011511687.1:c.1293G>T XP_011509989.1:p.Glu431Asp
XM_011511688.1:c.1293G>T XP_011509990.1:p.Glu431Asp
NM_001204.7:c.1293G>T MANE Select NP_001195.2:p.Glu431Asp
Search 100 bp 5'
Search 100 bp 3'