Canonical Allele Identifier: CA1321545820

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202533036_202533040delinsCATCT , CM000664.2:g.202533036_202533040delinsCATCT	GRCh38
NC_000002.11:g.203397759_203397763delinsCATCT , CM000664.1:g.203397759_203397763delinsCATCT	GRCh37
NC_000002.10:g.203106004_203106008delinsCATCT	NCBI36
NG_009363.1:g.161710_161714delinsCATCT , LRG_712:g.161710_161714delinsCATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+304_1276+308delinsCATCT MANE Select	ENSP00000363708.4:n.1276+304_1276+308delinsCATCT
ENST00000638587.1:c.1207+304_1207+308delinsCATCT	ENSP00000491062.1:n.1207+304_1207+308delinsCATCT
ENST00000374574.2:c.1276+304_1276+308delinsCATCT	ENSP00000363702.2:n.1276+304_1276+308delinsCATCT
ENST00000374580.8:c.1276+304_1276+308delinsCATCT	ENSP00000363708.4:n.1276+304_1276+308delinsCATCT
NM_001204.6:c.1276+304_1276+308delinsCATCT , LRG_712t1:c.1276+304_1276+308delinsCATCT	NP_001195.2:n.1276+304_1276+308delinsCATCT
XM_011511687.1:c.1276+304_1276+308delinsCATCT	XP_011509989.1:n.1276+304_1276+308delinsCATCT
XM_011511688.1:c.1276+304_1276+308delinsCATCT	XP_011509990.1:n.1276+304_1276+308delinsCATCT
NM_001204.7:c.1276+304_1276+308delinsCATCT MANE Select	NP_001195.2:n.1276+304_1276+308delinsCATCT