Canonical Allele Identifier: CA2586971018

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556012_202556013insTC , CM000664.2:g.202556012_202556013insTC	GRCh38
NC_000002.11:g.203420735_203420736insTC , CM000664.1:g.203420735_203420736insTC	GRCh37
NC_000002.10:g.203128980_203128981insTC	NCBI36
NG_009363.1:g.184686_184687insTC , LRG_712:g.184686_184687insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2347_2348insTC MANE Select	ENSP00000363708.4:p.Gln783LeufsTer10
ENST00000638587.1:c.2278_2279insTC	ENSP00000491062.1:n.2278_2279insTC
ENST00000374574.2:c.1586+3124_1586+3125insTC	ENSP00000363702.2:n.1586+3124_1586+3125insTC
ENST00000374580.8:c.2347_2348insTC	ENSP00000363708.4:p.Gln783LeufsTer10
NM_001204.6:c.2347_2348insTC , LRG_712t1:c.2347_2348insTC	NP_001195.2:p.Gln783LeufsTer10
XM_011511687.1:c.2347_2348insTC	XP_011509989.1:p.Gln783LeufsTer10
XM_011511688.1:c.1586+3124_1586+3125insTC	XP_011509990.1:n.1586+3124_1586+3125insTC
NM_001204.7:c.2347_2348insTC MANE Select	NP_001195.2:p.Gln783LeufsTer10