Canonical Allele Identifier: CA350340608
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425830
ClinVar RCV Id: RCV000488510
dbSNP Id: rs1085307265

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519030T>C , CM000664.2:g.202519030T>C GRCh38
NC_000002.11:g.203383753T>C , CM000664.1:g.203383753T>C GRCh37
NC_000002.10:g.203091998T>C NCBI36
NG_009363.1:g.147704T>C , LRG_712:g.147704T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.830T>C MANE Select ENSP00000363708.4:p.Leu277Pro
ENST00000638587.1:c.761T>C ENSP00000491062.1:p.Leu254Pro
ENST00000374574.2:c.830T>C ENSP00000363702.2:p.Leu277Pro
ENST00000374580.8:c.830T>C ENSP00000363708.4:p.Leu277Pro
NM_001204.6:c.830T>C , LRG_712t1:c.830T>C NP_001195.2:p.Leu277Pro
XM_011511687.1:c.830T>C XP_011509989.1:p.Leu277Pro
XM_011511688.1:c.830T>C XP_011509990.1:p.Leu277Pro
NM_001204.7:c.830T>C MANE Select NP_001195.2:p.Leu277Pro