Canonical Allele Identifier: CA2586971024

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556342_202556343insTTTCC , CM000664.2:g.202556342_202556343insTTTCC	GRCh38
NC_000002.11:g.203421065_203421066insTTTCC , CM000664.1:g.203421065_203421066insTTTCC	GRCh37
NC_000002.10:g.203129310_203129311insTTTCC	NCBI36
NG_009363.1:g.185016_185017insTTTCC , LRG_712:g.185016_185017insTTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2677_2678insTTTCC MANE Select	ENSP00000363708.4:p.Arg893LeufsTer5
ENST00000638587.1:c.2608_2609insTTTCC	ENSP00000491062.1:n.2608_2609insTTTCC
ENST00000374574.2:c.1587-3354_1587-3353insTTTCC	ENSP00000363702.2:n.1587-3354_1587-3353insTTTCC
ENST00000374580.8:c.2677_2678insTTTCC	ENSP00000363708.4:p.Arg893LeufsTer5
NM_001204.6:c.2677_2678insTTTCC , LRG_712t1:c.2677_2678insTTTCC	NP_001195.2:p.Arg893LeufsTer5
XM_011511687.1:c.2677_2678insTTTCC	XP_011509989.1:p.Arg893LeufsTer5
XM_011511688.1:c.1587-3354_1587-3353insTTTCC	XP_011509990.1:n.1587-3354_1587-3353insTTTCC
NM_001204.7:c.2677_2678insTTTCC MANE Select	NP_001195.2:p.Arg893LeufsTer5