Canonical Allele Identifier: CA350399598
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812798
ClinVar RCV Id: RCV001003660
dbSNP Id: rs749485755
MyVariant Identifiers: chr2:g.203332282T>G (hg19) chr2:g.202467559T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467559T>G , CM000664.2:g.202467559T>G GRCh38
NC_000002.11:g.203332282T>G , CM000664.1:g.203332282T>G GRCh37
NC_000002.10:g.203040527T>G NCBI36
NG_009363.1:g.96233T>G , LRG_712:g.96233T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.288T>G MANE Select ENSP00000363708.4:p.Tyr96Ter
ENST00000638587.1:c.219T>G ENSP00000491062.1:p.Tyr73Ter
ENST00000374574.2:c.288T>G ENSP00000363702.2:p.Tyr96Ter
ENST00000374580.8:c.288T>G ENSP00000363708.4:p.Tyr96Ter
ENST00000479069.1:n.195T>G
NM_001204.6:c.288T>G , LRG_712t1:c.288T>G NP_001195.2:p.Tyr96Ter
XM_011511687.1:c.288T>G XP_011509989.1:p.Tyr96Ter
XM_011511688.1:c.288T>G XP_011509990.1:p.Tyr96Ter
NM_001204.7:c.288T>G MANE Select NP_001195.2:p.Tyr96Ter
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