Canonical Allele Identifier: CA1321510538

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467574_202467577delinsAACT , CM000664.2:g.202467574_202467577delinsAACT	GRCh38
NC_000002.11:g.203332297_203332300delinsAACT , CM000664.1:g.203332297_203332300delinsAACT	GRCh37
NC_000002.10:g.203040542_203040545delinsAACT	NCBI36
NG_009363.1:g.96248_96251delinsAACT , LRG_712:g.96248_96251delinsAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.303_306delinsAACT MANE Select	ENSP00000363708.4:p.Val101=
ENST00000638587.1:c.234_237delinsAACT	ENSP00000491062.1:p.Val78=
ENST00000374574.2:c.303_306delinsAACT	ENSP00000363702.2:p.Val101=
ENST00000374580.8:c.303_306delinsAACT	ENSP00000363708.4:p.Val101=
ENST00000479069.1:n.210_213delinsAACT
NM_001204.6:c.303_306delinsAACT , LRG_712t1:c.303_306delinsAACT	NP_001195.2:p.Val101=
XM_011511687.1:c.303_306delinsAACT	XP_011509989.1:p.Val101=
XM_011511688.1:c.303_306delinsAACT	XP_011509990.1:p.Val101=
NM_001204.7:c.303_306delinsAACT MANE Select	NP_001195.2:p.Val101=