Canonical Allele Identifier: CA2061501

Gene: BMPR2

Linked Data

• dbSNP Id: rs775287369
• ExAC: 2:203420580 C / A
• gnomAD v2: 2-203420580-C-A
• MyVariant Identifiers: chr2:g.203420580C>A (hg19) ; chr2:g.202555857C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555857C>A , CM000664.2:g.202555857C>A	GRCh38
NC_000002.11:g.203420580C>A , CM000664.1:g.203420580C>A	GRCh37
NC_000002.10:g.203128825C>A	NCBI36
NG_009363.1:g.184531C>A , LRG_712:g.184531C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.2192C>A MANE Select	ENSP00000363708.4:p.Ala731Glu
ENST00000638587.1:c.2123C>A	ENSP00000491062.1:n.2123C>A
ENST00000374574.2:c.1586+2969C>A	ENSP00000363702.2:n.1586+2969C>A
ENST00000374580.8:c.2192C>A	ENSP00000363708.4:p.Ala731Glu
NM_001204.6:c.2192C>A , LRG_712t1:c.2192C>A	NP_001195.2:p.Ala731Glu
XM_011511687.1:c.2192C>A	XP_011509989.1:p.Ala731Glu
XM_011511688.1:c.1586+2969C>A	XP_011509990.1:n.1586+2969C>A
NM_001204.7:c.2192C>A MANE Select	NP_001195.2:p.Ala731Glu