Canonical Allele Identifier: CA2061205

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 2721424
• ClinVar RCV Id: RCV003596725 ; RCV004369143
• dbSNP Id: rs759935686
• ExAC: 2:203383708 T / C
• gnomAD v2: 2-203383708-T-C
• gnomAD v3: 2-202518985-T-C
• gnomAD v4: 2-202518985-T-C
• MyVariant Identifiers: chr2:g.203383708T>C (hg19) ; chr2:g.202518985T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518985T>C , CM000664.2:g.202518985T>C	GRCh38
NC_000002.11:g.203383708T>C , CM000664.1:g.203383708T>C	GRCh37
NC_000002.10:g.203091953T>C	NCBI36
NG_009363.1:g.147659T>C , LRG_712:g.147659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.785T>C MANE Select	ENSP00000363708.4:p.Val262Ala
ENST00000638587.1:c.716T>C	ENSP00000491062.1:p.Val239Ala
ENST00000374574.2:c.785T>C	ENSP00000363702.2:p.Val262Ala
ENST00000374580.8:c.785T>C	ENSP00000363708.4:p.Val262Ala
NM_001204.6:c.785T>C , LRG_712t1:c.785T>C	NP_001195.2:p.Val262Ala
XM_011511687.1:c.785T>C	XP_011509989.1:p.Val262Ala
XM_011511688.1:c.785T>C	XP_011509990.1:p.Val262Ala
NM_001204.7:c.785T>C MANE Select	NP_001195.2:p.Val262Ala