Canonical Allele Identifier: CA2662706606

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202552821-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202552824del , CM000664.2:g.202552824del	GRCh38
NC_000002.11:g.203417547del , CM000664.1:g.203417547del	GRCh37
NC_000002.10:g.203125792del	NCBI36
NG_009363.1:g.181498del , LRG_712:g.181498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1522del MANE Select	ENSP00000363708.4:p.Trp508GlyfsTer7
ENST00000638587.1:c.1453del	ENSP00000491062.1:p.Trp485GlyfsTer7
ENST00000374574.2:c.1522del	ENSP00000363702.2:p.Trp508GlyfsTer7
ENST00000374580.8:c.1522del	ENSP00000363708.4:p.Trp508GlyfsTer7
NM_001204.6:c.1522del , LRG_712t1:c.1522del	NP_001195.2:p.Trp508GlyfsTer7
XM_011511687.1:c.1522del	XP_011509989.1:p.Trp508GlyfsTer7
XM_011511688.1:c.1522del	XP_011509990.1:p.Trp508GlyfsTer7
NM_001204.7:c.1522del MANE Select	NP_001195.2:p.Trp508GlyfsTer7