Canonical Allele Identifier: CA350348489

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 2274311
• ClinVar RCV Id: RCV002812946
• gnomAD v4: 2-202556063-C-T
• MyVariant Identifiers: chr2:g.203420786C>T (hg19) ; chr2:g.202556063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556063C>T , CM000664.2:g.202556063C>T	GRCh38
NC_000002.11:g.203420786C>T , CM000664.1:g.203420786C>T	GRCh37
NC_000002.10:g.203129031C>T	NCBI36
NG_009363.1:g.184737C>T , LRG_712:g.184737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2398C>T MANE Select	ENSP00000363708.4:p.His800Tyr
ENST00000638587.1:c.2329C>T	ENSP00000491062.1:n.2329C>T
ENST00000374574.2:c.1586+3175C>T	ENSP00000363702.2:n.1586+3175C>T
ENST00000374580.8:c.2398C>T	ENSP00000363708.4:p.His800Tyr
NM_001204.6:c.2398C>T , LRG_712t1:c.2398C>T	NP_001195.2:p.His800Tyr
XM_011511687.1:c.2398C>T	XP_011509989.1:p.His800Tyr
XM_011511688.1:c.1586+3175C>T	XP_011509990.1:n.1586+3175C>T
NM_001204.7:c.2398C>T MANE Select	NP_001195.2:p.His800Tyr