Canonical Allele Identifier: CA1321510693

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467674_202467679delinsGACACA , CM000664.2:g.202467674_202467679delinsGACACA	GRCh38
NC_000002.11:g.203332397_203332402delinsGACACA , CM000664.1:g.203332397_203332402delinsGACACA	GRCh37
NC_000002.10:g.203040642_203040647delinsGACACA	NCBI36
NG_009363.1:g.96348_96353delinsGACACA , LRG_712:g.96348_96353delinsGACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.403_408delinsGACACA MANE Select	ENSP00000363708.4:p.Asp135=
ENST00000638587.1:c.334_339delinsGACACA	ENSP00000491062.1:p.Asp112=
ENST00000374574.2:c.403_408delinsGACACA	ENSP00000363702.2:p.Asp135=
ENST00000374580.8:c.403_408delinsGACACA	ENSP00000363708.4:p.Asp135=
ENST00000479069.1:n.310_315delinsGACACA
NM_001204.6:c.403_408delinsGACACA , LRG_712t1:c.403_408delinsGACACA	NP_001195.2:p.Asp135=
XM_011511687.1:c.403_408delinsGACACA	XP_011509989.1:p.Asp135=
XM_011511688.1:c.403_408delinsGACACA	XP_011509990.1:p.Asp135=
NM_001204.7:c.403_408delinsGACACA MANE Select	NP_001195.2:p.Asp135=