Canonical Allele Identifier: CA350349127
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426001
ClinVar RCV Id: RCV000488553
dbSNP Id: rs1085307398

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556291C>T , CM000664.2:g.202556291C>T GRCh38
NC_000002.11:g.203421014C>T , CM000664.1:g.203421014C>T GRCh37
NC_000002.10:g.203129259C>T NCBI36
NG_009363.1:g.184965C>T , LRG_712:g.184965C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2626C>T MANE Select ENSP00000363708.4:p.Gln876Ter
ENST00000638587.1:c.2557C>T ENSP00000491062.1:n.2557C>T
ENST00000374574.2:c.1586+3403C>T ENSP00000363702.2:n.1586+3403C>T
ENST00000374580.8:c.2626C>T ENSP00000363708.4:p.Gln876Ter
NM_001204.6:c.2626C>T , LRG_712t1:c.2626C>T NP_001195.2:p.Gln876Ter
XM_011511687.1:c.2626C>T XP_011509989.1:p.Gln876Ter
XM_011511688.1:c.1586+3403C>T XP_011509990.1:n.1586+3403C>T
NM_001204.7:c.2626C>T MANE Select NP_001195.2:p.Gln876Ter