Canonical Allele Identifier: CA350396688
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425684
dbSNP Id: rs1085307153

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377521G>A , CM000664.2:g.202377521G>A GRCh38
NC_000002.11:g.203242244G>A , CM000664.1:g.203242244G>A GRCh37
NC_000002.10:g.202950489G>A NCBI36
NG_009363.1:g.6195G>A , LRG_712:g.6195G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.47G>A MANE Select ENSP00000363708.4:p.Trp16Ter
ENST00000374574.2:c.47G>A ENSP00000363702.2:p.Trp16Ter
ENST00000374580.8:c.47G>A ENSP00000363708.4:p.Trp16Ter
NM_001204.6:c.47G>A , LRG_712t1:c.47G>A NP_001195.2:p.Trp16Ter
XM_011511687.1:c.47G>A XP_011509989.1:p.Trp16Ter
XM_011511688.1:c.47G>A XP_011509990.1:p.Trp16Ter
NM_001204.7:c.47G>A MANE Select NP_001195.2:p.Trp16Ter