Canonical Allele Identifier: CA645293797
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425783
ClinVar RCV Id: RCV000488737
dbSNP Id: rs1085307231

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513709T>C , CM000664.2:g.202513709T>C GRCh38
NC_000002.11:g.203378432T>C , CM000664.1:g.203378432T>C GRCh37
NC_000002.10:g.203086677T>C NCBI36
NG_009363.1:g.142383T>C , LRG_712:g.142383T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.419-10T>C MANE Select ENSP00000363708.4:n.419-10T>C
ENST00000638587.1:c.350-10T>C ENSP00000491062.1:n.350-10T>C
ENST00000374574.2:c.419-10T>C ENSP00000363702.2:n.419-10T>C
ENST00000374580.8:c.419-10T>C ENSP00000363708.4:n.419-10T>C
NM_001204.6:c.419-10T>C , LRG_712t1:c.419-10T>C NP_001195.2:n.419-10T>C
XM_011511687.1:c.419-10T>C XP_011509989.1:n.419-10T>C
XM_011511688.1:c.419-10T>C XP_011509990.1:n.419-10T>C
NM_001204.7:c.419-10T>C MANE Select NP_001195.2:n.419-10T>C