Canonical Allele Identifier: CA1321510738
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467688_202467692delinsCAGTA , CM000664.2:g.202467688_202467692delinsCAGTA GRCh38
NC_000002.11:g.203332411_203332415delinsCAGTA , CM000664.1:g.203332411_203332415delinsCAGTA GRCh37
NC_000002.10:g.203040656_203040660delinsCAGTA NCBI36
NG_009363.1:g.96362_96366delinsCAGTA , LRG_712:g.96362_96366delinsCAGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.417_418+3delinsCAGTA
ENST00000638587.1:c.348_349+3delinsCAGTA
ENST00000374574.2:c.417_418+3delinsCAGTA
ENST00000374580.8:c.417_418+3delinsCAGTA
ENST00000479069.1:n.324_325+3delinsCAGTA
NM_001204.6:c.417_418+3delinsCAGTA , LRG_712t1:c.417_418+3delinsCAGTA
XM_011511687.1:c.417_418+3delinsCAGTA
XM_011511688.1:c.417_418+3delinsCAGTA
NM_001204.7:c.417_418+3delinsCAGTA