Canonical Allele Identifier: CA350340610
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383755G>A (hg19) chr2:g.202519032G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519032G>A , CM000664.2:g.202519032G>A GRCh38
NC_000002.11:g.203383755G>A , CM000664.1:g.203383755G>A GRCh37
NC_000002.10:g.203092000G>A NCBI36
NG_009363.1:g.147706G>A , LRG_712:g.147706G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.832G>A MANE Select ENSP00000363708.4:p.Val278Met
ENST00000638587.1:c.763G>A ENSP00000491062.1:p.Val255Met
ENST00000374574.2:c.832G>A ENSP00000363702.2:p.Val278Met
ENST00000374580.8:c.832G>A ENSP00000363708.4:p.Val278Met
NM_001204.6:c.832G>A , LRG_712t1:c.832G>A NP_001195.2:p.Val278Met
XM_011511687.1:c.832G>A XP_011509989.1:p.Val278Met
XM_011511688.1:c.832G>A XP_011509990.1:p.Val278Met
NM_001204.7:c.832G>A MANE Select NP_001195.2:p.Val278Met
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