Canonical Allele Identifier: CA1041342139

Gene: BMPR2 RPL13AP12

Linked Data

• dbSNP Id: rs1687804159
• gnomAD v3: 2-202520646-CA-C
• gnomAD v4: 2-202520646-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520647del , CM000664.2:g.202520647del	GRCh38
NC_000002.11:g.203385370del , CM000664.1:g.203385370del	GRCh37
NC_000002.10:g.203093615del	NCBI36
NG_009363.1:g.149321del , LRG_712:g.149321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.967+446del (BMPR2) MANE Select	ENSP00000363708.4:n.967+446del
ENST00000638587.1:c.898+446del (BMPR2)	ENSP00000491062.1:n.898+446del
ENST00000374574.2:c.967+446del (BMPR2)	ENSP00000363702.2:n.967+446del
ENST00000374580.8:c.967+446del (BMPR2)	ENSP00000363708.4:n.967+446del
ENST00000435125.1:n.247del (RPL13AP12)
NM_001204.6:c.967+446del , LRG_712t1:c.967+446del (BMPR2)	NP_001195.2:n.967+446del
XM_011511687.1:c.967+446del (BMPR2)	XP_011509989.1:n.967+446del
XM_011511688.1:c.967+446del (BMPR2)	XP_011509990.1:n.967+446del
NM_001204.7:c.967+446del (BMPR2) MANE Select	NP_001195.2:n.967+446del