Canonical Allele Identifier: CA350399040
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425702
dbSNP Id: rs1085307163

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464832T>C , CM000664.2:g.202464832T>C GRCh38
NC_000002.11:g.203329555T>C , CM000664.1:g.203329555T>C GRCh37
NC_000002.10:g.203037800T>C NCBI36
NG_009363.1:g.93506T>C , LRG_712:g.93506T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.100T>C MANE Select ENSP00000363708.4:p.Cys34Arg
ENST00000638587.1:c.25T>C ENSP00000491062.1:p.Cys9Arg
ENST00000374574.2:c.100T>C ENSP00000363702.2:p.Cys34Arg
ENST00000374580.8:c.100T>C ENSP00000363708.4:p.Cys34Arg
ENST00000479069.1:n.7T>C
NM_001204.6:c.100T>C , LRG_712t1:c.100T>C NP_001195.2:p.Cys34Arg
XM_011511687.1:c.100T>C XP_011509989.1:p.Cys34Arg
XM_011511688.1:c.100T>C XP_011509990.1:p.Cys34Arg
NM_001204.7:c.100T>C MANE Select NP_001195.2:p.Cys34Arg