Canonical Allele Identifier: CA1321514950

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202472148_202472152delinsAACAG , CM000664.2:g.202472148_202472152delinsAACAG	GRCh38
NC_000002.11:g.203336871_203336875delinsAACAG , CM000664.1:g.203336871_203336875delinsAACAG	GRCh37
NC_000002.10:g.203045116_203045120delinsAACAG	NCBI36
NG_009363.1:g.100822_100826delinsAACAG , LRG_712:g.100822_100826delinsAACAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.418+4459_418+4463delinsAACAG MANE Select	ENSP00000363708.4:n.418+4459_418+4463delinsAACAG
ENST00000638587.1:c.349+4459_349+4463delinsAACAG	ENSP00000491062.1:n.349+4459_349+4463delinsAACAG
ENST00000374574.2:c.418+4459_418+4463delinsAACAG	ENSP00000363702.2:n.418+4459_418+4463delinsAACAG
ENST00000374580.8:c.418+4459_418+4463delinsAACAG	ENSP00000363708.4:n.418+4459_418+4463delinsAACAG
ENST00000479069.1:n.326-2560_326-2556delinsAACAG
NM_001204.6:c.418+4459_418+4463delinsAACAG , LRG_712t1:c.418+4459_418+4463delinsAACAG	NP_001195.2:n.418+4459_418+4463delinsAACAG
XM_011511687.1:c.418+4459_418+4463delinsAACAG	XP_011509989.1:n.418+4459_418+4463delinsAACAG
XM_011511688.1:c.418+4459_418+4463delinsAACAG	XP_011509990.1:n.418+4459_418+4463delinsAACAG
NM_001204.7:c.418+4459_418+4463delinsAACAG MANE Select	NP_001195.2:n.418+4459_418+4463delinsAACAG