Canonical Allele Identifier: CA645532633
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1459305
ClinVar RCV Id: RCV001975191
dbSNP Id: rs1688010642

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530854dup , CM000664.2:g.202530854dup GRCh38
NC_000002.11:g.203395577dup , CM000664.1:g.203395577dup GRCh37
NC_000002.10:g.203103822dup NCBI36
NG_009363.1:g.159528dup , LRG_712:g.159528dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1028dup MANE Select ENSP00000363708.4:p.Asn343LysfsTer2
ENST00000638587.1:c.959dup ENSP00000491062.1:p.Asn320LysfsTer2
ENST00000374574.2:c.1028dup ENSP00000363702.2:p.Asn343LysfsTer2
ENST00000374580.8:c.1028dup ENSP00000363708.4:p.Asn343LysfsTer2
NM_001204.6:c.1028dup , LRG_712t1:c.1028dup NP_001195.2:p.Asn343LysfsTer2
XM_011511687.1:c.1028dup XP_011509989.1:p.Asn343LysfsTer2
XM_011511688.1:c.1028dup XP_011509990.1:p.Asn343LysfsTer2
NM_001204.7:c.1028dup MANE Select NP_001195.2:p.Asn343LysfsTer2