Canonical Allele Identifier: CA430838970
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383607T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518884T>G , CM000664.2:g.202518884T>G GRCh38
NC_000002.11:g.203383607T>G , CM000664.1:g.203383607T>G GRCh37
NC_000002.10:g.203091852T>G NCBI36
NG_009363.1:g.147558T>G , LRG_712:g.147558T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.684T>G MANE Select ENSP00000363708.4:p.Ala228=
ENST00000638587.1:c.615T>G ENSP00000491062.1:p.Ala205=
ENST00000374574.2:c.684T>G ENSP00000363702.2:p.Ala228=
ENST00000374580.8:c.684T>G ENSP00000363708.4:p.Ala228=
NM_001204.6:c.684T>G , LRG_712t1:c.684T>G NP_001195.2:p.Ala228=
XM_011511687.1:c.684T>G XP_011509989.1:p.Ala228=
XM_011511688.1:c.684T>G XP_011509990.1:p.Ala228=
NM_001204.7:c.684T>G MANE Select NP_001195.2:p.Ala228=