Canonical Allele Identifier: CA763417517
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1318418667
MyVariant Identifiers: chr2:g.203329363T>C (hg19) chr2:g.202464640T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464640T>C , CM000664.2:g.202464640T>C GRCh38
NC_000002.11:g.203329363T>C , CM000664.1:g.203329363T>C GRCh37
NC_000002.10:g.203037608T>C NCBI36
NG_009363.1:g.93314T>C , LRG_712:g.93314T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.77-169T>C MANE Select ENSP00000363708.4:n.77-169T>C
ENST00000374574.2:c.77-169T>C ENSP00000363702.2:n.77-169T>C
ENST00000374580.8:c.77-169T>C ENSP00000363708.4:n.77-169T>C
NM_001204.6:c.77-169T>C , LRG_712t1:c.77-169T>C NP_001195.2:n.77-169T>C
XM_011511687.1:c.77-169T>C XP_011509989.1:n.77-169T>C
XM_011511688.1:c.77-169T>C XP_011509990.1:n.77-169T>C
NM_001204.7:c.77-169T>C MANE Select NP_001195.2:n.77-169T>C
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