Canonical Allele Identifier: CA2580612184

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555756_202555757insTGGG , CM000664.2:g.202555756_202555757insTGGG	GRCh38
NC_000002.11:g.203420479_203420480insTGGG , CM000664.1:g.203420479_203420480insTGGG	GRCh37
NC_000002.10:g.203128724_203128725insTGGG	NCBI36
NG_009363.1:g.184430_184431insTGGG , LRG_712:g.184430_184431insTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2091_2092insTGGG MANE Select	ENSP00000363708.4:p.Pro698TrpfsTer7
ENST00000638587.1:c.2022_2023insTGGG	ENSP00000491062.1:n.2022_2023insTGGG
ENST00000374574.2:c.1586+2868_1586+2869insTGGG	ENSP00000363702.2:n.1586+2868_1586+2869insTGGG
ENST00000374580.8:c.2091_2092insTGGG	ENSP00000363708.4:p.Pro698TrpfsTer7
NM_001204.6:c.2091_2092insTGGG , LRG_712t1:c.2091_2092insTGGG	NP_001195.2:p.Pro698TrpfsTer7
XM_011511687.1:c.2091_2092insTGGG	XP_011509989.1:p.Pro698TrpfsTer7
XM_011511688.1:c.1586+2868_1586+2869insTGGG	XP_011509990.1:n.1586+2868_1586+2869insTGGG
NM_001204.7:c.2091_2092insTGGG MANE Select	NP_001195.2:p.Pro698TrpfsTer7