Canonical Allele Identifier: CA10613575

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 333636
• ClinVar RCV Id: RCV000294166 ; RCV003150164
• dbSNP Id: rs147936167
• gnomAD v2: 2-203242105-A-G
• gnomAD v3: 2-202377382-A-G
• gnomAD v4: 2-202377382-A-G
• MyVariant Identifiers: chr2:g.203242105A>G (hg19) ; chr2:g.202377382A>G (hg38)
• ERepo: CA10613575/MONDO:0015924/125

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377382A>G , CM000664.2:g.202377382A>G	GRCh38
NC_000002.11:g.203242105A>G , CM000664.1:g.203242105A>G	GRCh37
NC_000002.10:g.202950350A>G	NCBI36
NG_009363.1:g.6056A>G , LRG_712:g.6056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.-93A>G MANE Select	ENSP00000363708.4:n.-93A>G
ENST00000374580.8:c.-93A>G	ENSP00000363708.4:n.-93A>G
NM_001204.6:c.-93A>G , LRG_712t1:c.-93A>G	NP_001195.2:n.-93A>G
XM_011511687.1:c.-93A>G	XP_011509989.1:n.-93A>G
XM_011511688.1:c.-93A>G	XP_011509990.1:n.-93A>G
NM_001204.7:c.-93A>G MANE Select	NP_001195.2:n.-93A>G