Canonical Allele Identifier: CA430838434
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203378509T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513786T>A , CM000664.2:g.202513786T>A GRCh38
NC_000002.11:g.203378509T>A , CM000664.1:g.203378509T>A GRCh37
NC_000002.10:g.203086754T>A NCBI36
NG_009363.1:g.142460T>A , LRG_712:g.142460T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.486T>A MANE Select ENSP00000363708.4:p.Ala162=
ENST00000638587.1:c.417T>A ENSP00000491062.1:p.Ala139=
ENST00000374574.2:c.486T>A ENSP00000363702.2:p.Ala162=
ENST00000374580.8:c.486T>A ENSP00000363708.4:p.Ala162=
NM_001204.6:c.486T>A , LRG_712t1:c.486T>A NP_001195.2:p.Ala162=
XM_011511687.1:c.486T>A XP_011509989.1:p.Ala162=
XM_011511688.1:c.486T>A XP_011509990.1:p.Ala162=
NM_001204.7:c.486T>A MANE Select NP_001195.2:p.Ala162=