Canonical Allele Identifier: CA1321556662
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552819_202552820delinsTG , CM000664.2:g.202552819_202552820delinsTG GRCh38
NC_000002.11:g.203417542_203417543delinsTG , CM000664.1:g.203417542_203417543delinsTG GRCh37
NC_000002.10:g.203125787_203125788delinsTG NCBI36
NG_009363.1:g.181493_181494delinsTG , LRG_712:g.181493_181494delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1517_1518delinsTG MANE Select ENSP00000363708.4:p.Met506=
ENST00000638587.1:c.1448_1449delinsTG ENSP00000491062.1:p.Met483=
ENST00000374574.2:c.1517_1518delinsTG ENSP00000363702.2:p.Met506=
ENST00000374580.8:c.1517_1518delinsTG ENSP00000363708.4:p.Met506=
NM_001204.6:c.1517_1518delinsTG , LRG_712t1:c.1517_1518delinsTG NP_001195.2:p.Met506=
XM_011511687.1:c.1517_1518delinsTG XP_011509989.1:p.Met506=
XM_011511688.1:c.1517_1518delinsTG XP_011509990.1:p.Met506=
NM_001204.7:c.1517_1518delinsTG MANE Select NP_001195.2:p.Met506=