Canonical Allele Identifier: CA350340815
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812822
ClinVar RCV Id: RCV001003699
dbSNP Id: rs1574489046
MyVariant Identifiers: chr2:g.203384874A>C (hg19) chr2:g.202520151A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520151A>C , CM000664.2:g.202520151A>C GRCh38
NC_000002.11:g.203384874A>C , CM000664.1:g.203384874A>C GRCh37
NC_000002.10:g.203093119A>C NCBI36
NG_009363.1:g.148825A>C , LRG_712:g.148825A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.917A>C MANE Select ENSP00000363708.4:p.His306Pro
ENST00000638587.1:c.848A>C ENSP00000491062.1:p.His283Pro
ENST00000374574.2:c.917A>C ENSP00000363702.2:p.His306Pro
ENST00000374580.8:c.917A>C ENSP00000363708.4:p.His306Pro
NM_001204.6:c.917A>C , LRG_712t1:c.917A>C NP_001195.2:p.His306Pro
XM_011511687.1:c.917A>C XP_011509989.1:p.His306Pro
XM_011511688.1:c.917A>C XP_011509990.1:p.His306Pro
NM_001204.7:c.917A>C MANE Select NP_001195.2:p.His306Pro
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