Canonical Allele Identifier: CA350340260
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425815
ClinVar RCV Id: RCV000488693
dbSNP Id: rs1085307252

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518890A>T , CM000664.2:g.202518890A>T GRCh38
NC_000002.11:g.203383613A>T , CM000664.1:g.203383613A>T GRCh37
NC_000002.10:g.203091858A>T NCBI36
NG_009363.1:g.147564A>T , LRG_712:g.147564A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.690A>T MANE Select ENSP00000363708.4:p.Lys230Asn
ENST00000638587.1:c.621A>T ENSP00000491062.1:p.Lys207Asn
ENST00000374574.2:c.690A>T ENSP00000363702.2:p.Lys230Asn
ENST00000374580.8:c.690A>T ENSP00000363708.4:p.Lys230Asn
NM_001204.6:c.690A>T , LRG_712t1:c.690A>T NP_001195.2:p.Lys230Asn
XM_011511687.1:c.690A>T XP_011509989.1:p.Lys230Asn
XM_011511688.1:c.690A>T XP_011509990.1:p.Lys230Asn
NM_001204.7:c.690A>T MANE Select NP_001195.2:p.Lys230Asn