Canonical Allele Identifier: CA350341342
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425861
ClinVar RCV Id: RCV000488735
dbSNP Id: rs1085307286

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530827T>G , CM000664.2:g.202530827T>G GRCh38
NC_000002.11:g.203395550T>G , CM000664.1:g.203395550T>G GRCh37
NC_000002.10:g.203103795T>G NCBI36
NG_009363.1:g.159501T>G , LRG_712:g.159501T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1001T>G MANE Select ENSP00000363708.4:p.Leu334Ter
ENST00000638587.1:c.932T>G ENSP00000491062.1:p.Leu311Ter
ENST00000374574.2:c.1001T>G ENSP00000363702.2:p.Leu334Ter
ENST00000374580.8:c.1001T>G ENSP00000363708.4:p.Leu334Ter
NM_001204.6:c.1001T>G , LRG_712t1:c.1001T>G NP_001195.2:p.Leu334Ter
XM_011511687.1:c.1001T>G XP_011509989.1:p.Leu334Ter
XM_011511688.1:c.1001T>G XP_011509990.1:p.Leu334Ter
NM_001204.7:c.1001T>G MANE Select NP_001195.2:p.Leu334Ter