Canonical Allele Identifier: CA430838396
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203378462C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513739C>A , CM000664.2:g.202513739C>A GRCh38
NC_000002.11:g.203378462C>A , CM000664.1:g.203378462C>A GRCh37
NC_000002.10:g.203086707C>A NCBI36
NG_009363.1:g.142413C>A , LRG_712:g.142413C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.439C>A MANE Select ENSP00000363708.4:p.Arg147=
ENST00000638587.1:c.370C>A ENSP00000491062.1:p.Arg124=
ENST00000374574.2:c.439C>A ENSP00000363702.2:p.Arg147=
ENST00000374580.8:c.439C>A ENSP00000363708.4:p.Arg147=
NM_001204.6:c.439C>A , LRG_712t1:c.439C>A NP_001195.2:p.Arg147=
XM_011511687.1:c.439C>A XP_011509989.1:p.Arg147=
XM_011511688.1:c.439C>A XP_011509990.1:p.Arg147=
NM_001204.7:c.439C>A MANE Select NP_001195.2:p.Arg147=