Canonical Allele Identifier: CA350338399
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425798
ClinVar RCV Id: RCV000488688
dbSNP Id: rs1085307239

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513816C>G , CM000664.2:g.202513816C>G GRCh38
NC_000002.11:g.203378539C>G , CM000664.1:g.203378539C>G GRCh37
NC_000002.10:g.203086784C>G NCBI36
NG_009363.1:g.142490C>G , LRG_712:g.142490C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.516C>G MANE Select ENSP00000363708.4:p.Tyr172Ter
ENST00000638587.1:c.447C>G ENSP00000491062.1:p.Tyr149Ter
ENST00000374574.2:c.516C>G ENSP00000363702.2:p.Tyr172Ter
ENST00000374580.8:c.516C>G ENSP00000363708.4:p.Tyr172Ter
NM_001204.6:c.516C>G , LRG_712t1:c.516C>G NP_001195.2:p.Tyr172Ter
XM_011511687.1:c.516C>G XP_011509989.1:p.Tyr172Ter
XM_011511688.1:c.516C>G XP_011509990.1:p.Tyr172Ter
NM_001204.7:c.516C>G MANE Select NP_001195.2:p.Tyr172Ter