Canonical Allele Identifier: CA2061013

Gene: BMPR2

Linked Data

• dbSNP Id: rs767092122
• ExAC: 2:203242274 G / GGAGGC
• MyVariant Identifiers: chr2:g.203242274_203242275insGAGGC (hg19) ; chr2:g.202377551_202377552insGAGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377551_202377552insGAGGC , CM000664.2:g.202377551_202377552insGAGGC	GRCh38
NC_000002.11:g.203242274_203242275insGAGGC , CM000664.1:g.203242274_203242275insGAGGC	GRCh37
NC_000002.10:g.202950519_202950520insGAGGC	NCBI36
NG_009363.1:g.6225_6226insGAGGC , LRG_712:g.6225_6226insGAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.76+1_76+2insGAGGC MANE Select	ENSP00000363708.4:n.76+1_76+2insGAGGC
ENST00000374574.2:c.76+1_76+2insGAGGC	ENSP00000363702.2:n.76+1_76+2insGAGGC
ENST00000374580.8:c.76+1_76+2insGAGGC	ENSP00000363708.4:n.76+1_76+2insGAGGC
NM_001204.6:c.76+1_76+2insGAGGC , LRG_712t1:c.76+1_76+2insGAGGC	NP_001195.2:n.76+1_76+2insGAGGC
XM_011511687.1:c.76+1_76+2insGAGGC	XP_011509989.1:n.76+1_76+2insGAGGC
XM_011511688.1:c.76+1_76+2insGAGGC	XP_011509990.1:n.76+1_76+2insGAGGC
NM_001204.7:c.76+1_76+2insGAGGC MANE Select	NP_001195.2:n.76+1_76+2insGAGGC