Canonical Allele Identifier: CA350399426
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1339369
ClinVar RCV Id: RCV001823965
dbSNP Id: rs137852742
MyVariant Identifiers: chr2:g.203329673C>A (hg19) chr2:g.202464950C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464950C>A , CM000664.2:g.202464950C>A GRCh38
NC_000002.11:g.203329673C>A , CM000664.1:g.203329673C>A GRCh37
NC_000002.10:g.203037918C>A NCBI36
NG_009363.1:g.93624C>A , LRG_712:g.93624C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.218C>A MANE Select ENSP00000363708.4:p.Ser73Ter
ENST00000638587.1:c.143C>A ENSP00000491062.1:p.Ser48Ter
ENST00000374574.2:c.218C>A ENSP00000363702.2:p.Ser73Ter
ENST00000374580.8:c.218C>A ENSP00000363708.4:p.Ser73Ter
ENST00000479069.1:n.125C>A
NM_001204.6:c.218C>A , LRG_712t1:c.218C>A NP_001195.2:p.Ser73Ter
XM_011511687.1:c.218C>A XP_011509989.1:p.Ser73Ter
XM_011511688.1:c.218C>A XP_011509990.1:p.Ser73Ter
NM_001204.7:c.218C>A MANE Select NP_001195.2:p.Ser73Ter
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