Canonical Allele Identifier: CA1321545712

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532737_202532740delinsAAAC , CM000664.2:g.202532737_202532740delinsAAAC	GRCh38
NC_000002.11:g.203397460_203397463delinsAAAC , CM000664.1:g.203397460_203397463delinsAAAC	GRCh37
NC_000002.10:g.203105705_203105708delinsAAAC	NCBI36
NG_009363.1:g.161411_161414delinsAAAC , LRG_712:g.161411_161414delinsAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+5_1276+8delinsAAAC MANE Select	ENSP00000363708.4:n.1276+5_1276+8delinsAAAC
ENST00000638587.1:c.1207+5_1207+8delinsAAAC	ENSP00000491062.1:n.1207+5_1207+8delinsAAAC
ENST00000374574.2:c.1276+5_1276+8delinsAAAC	ENSP00000363702.2:n.1276+5_1276+8delinsAAAC
ENST00000374580.8:c.1276+5_1276+8delinsAAAC	ENSP00000363708.4:n.1276+5_1276+8delinsAAAC
NM_001204.6:c.1276+5_1276+8delinsAAAC , LRG_712t1:c.1276+5_1276+8delinsAAAC	NP_001195.2:n.1276+5_1276+8delinsAAAC
XM_011511687.1:c.1276+5_1276+8delinsAAAC	XP_011509989.1:n.1276+5_1276+8delinsAAAC
XM_011511688.1:c.1276+5_1276+8delinsAAAC	XP_011509990.1:n.1276+5_1276+8delinsAAAC
NM_001204.7:c.1276+5_1276+8delinsAAAC MANE Select	NP_001195.2:n.1276+5_1276+8delinsAAAC