Canonical Allele Identifier: CA350341581
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2718957
ClinVar RCV Id: RCV003596465
COSMIC: COSM1015014
MyVariant Identifiers: chr2:g.203395663G>A (hg19) chr2:g.202530940G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530940G>A , CM000664.2:g.202530940G>A GRCh38
NC_000002.11:g.203395663G>A , CM000664.1:g.203395663G>A GRCh37
NC_000002.10:g.203103908G>A NCBI36
NG_009363.1:g.159614G>A , LRG_712:g.159614G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1114G>A MANE Select ENSP00000363708.4:p.Ala372Thr
ENST00000638587.1:c.1045G>A ENSP00000491062.1:p.Ala349Thr
ENST00000374574.2:c.1114G>A ENSP00000363702.2:p.Ala372Thr
ENST00000374580.8:c.1114G>A ENSP00000363708.4:p.Ala372Thr
NM_001204.6:c.1114G>A , LRG_712t1:c.1114G>A NP_001195.2:p.Ala372Thr
XM_011511687.1:c.1114G>A XP_011509989.1:p.Ala372Thr
XM_011511688.1:c.1114G>A XP_011509990.1:p.Ala372Thr
NM_001204.7:c.1114G>A MANE Select NP_001195.2:p.Ala372Thr
Search 100 bp 5'
Search 100 bp 3'