Canonical Allele Identifier: CA350340613
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383756T>A (hg19) chr2:g.202519033T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519033T>A , CM000664.2:g.202519033T>A GRCh38
NC_000002.11:g.203383756T>A , CM000664.1:g.203383756T>A GRCh37
NC_000002.10:g.203092001T>A NCBI36
NG_009363.1:g.147707T>A , LRG_712:g.147707T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.833T>A MANE Select ENSP00000363708.4:p.Val278Glu
ENST00000638587.1:c.764T>A ENSP00000491062.1:p.Val255Glu
ENST00000374574.2:c.833T>A ENSP00000363702.2:p.Val278Glu
ENST00000374580.8:c.833T>A ENSP00000363708.4:p.Val278Glu
NM_001204.6:c.833T>A , LRG_712t1:c.833T>A NP_001195.2:p.Val278Glu
XM_011511687.1:c.833T>A XP_011509989.1:p.Val278Glu
XM_011511688.1:c.833T>A XP_011509990.1:p.Val278Glu
NM_001204.7:c.833T>A MANE Select NP_001195.2:p.Val278Glu
Search 100 bp 5'
Search 100 bp 3'