Canonical Allele Identifier: CA2662705610

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202518752-CTTTATTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518757_202518763del , CM000664.2:g.202518757_202518763del	GRCh38
NC_000002.11:g.203383480_203383486del , CM000664.1:g.203383480_203383486del	GRCh37
NC_000002.10:g.203091725_203091731del	NCBI36
NG_009363.1:g.147431_147437del , LRG_712:g.147431_147437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.622-65_622-59del MANE Select	ENSP00000363708.4:n.622-65_622-59del
ENST00000638587.1:c.553-65_553-59del	ENSP00000491062.1:n.553-65_553-59del
ENST00000374574.2:c.622-65_622-59del	ENSP00000363702.2:n.622-65_622-59del
ENST00000374580.8:c.622-65_622-59del	ENSP00000363708.4:n.622-65_622-59del
NM_001204.6:c.622-65_622-59del , LRG_712t1:c.622-65_622-59del	NP_001195.2:n.622-65_622-59del
XM_011511687.1:c.622-65_622-59del	XP_011509989.1:n.622-65_622-59del
XM_011511688.1:c.622-65_622-59del	XP_011509990.1:n.622-65_622-59del
NM_001204.7:c.622-65_622-59del MANE Select	NP_001195.2:n.622-65_622-59del