Canonical Allele Identifier: CA2662703559

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202377231-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377232del , CM000664.2:g.202377232del	GRCh38
NC_000002.11:g.203241955del , CM000664.1:g.203241955del	GRCh37
NC_000002.10:g.202950200del	NCBI36
NG_009363.1:g.5906del , LRG_712:g.5906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.-243del MANE Select	ENSP00000363708.4:n.-243del
ENST00000374580.8:c.-243del	ENSP00000363708.4:n.-243del
NM_001204.6:c.-243del , LRG_712t1:c.-243del	NP_001195.2:n.-243del
XM_011511687.1:c.-243del	XP_011509989.1:n.-243del
XM_011511688.1:c.-243del	XP_011509990.1:n.-243del
NM_001204.7:c.-243del MANE Select	NP_001195.2:n.-243del