Canonical Allele Identifier: CA1321559731

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556146_202556147delinsTG , CM000664.2:g.202556146_202556147delinsTG	GRCh38
NC_000002.11:g.203420869_203420870delinsTG , CM000664.1:g.203420869_203420870delinsTG	GRCh37
NC_000002.10:g.203129114_203129115delinsTG	NCBI36
NG_009363.1:g.184820_184821delinsTG , LRG_712:g.184820_184821delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2481_2482delinsTG MANE Select	ENSP00000363708.4:p.Asn827=
ENST00000638587.1:c.2412_2413delinsTG	ENSP00000491062.1:n.2412_2413delinsTG
ENST00000374574.2:c.1586+3258_1586+3259delinsTG	ENSP00000363702.2:n.1586+3258_1586+3259delinsTG
ENST00000374580.8:c.2481_2482delinsTG	ENSP00000363708.4:p.Asn827=
NM_001204.6:c.2481_2482delinsTG , LRG_712t1:c.2481_2482delinsTG	NP_001195.2:p.Asn827=
XM_011511687.1:c.2481_2482delinsTG	XP_011509989.1:p.Asn827=
XM_011511688.1:c.1586+3258_1586+3259delinsTG	XP_011509990.1:n.1586+3258_1586+3259delinsTG
NM_001204.7:c.2481_2482delinsTG MANE Select	NP_001195.2:p.Asn827=