Canonical Allele Identifier: CA2061468

Gene: BMPR2

Linked Data

• dbSNP Id: rs200428510
• ExAC: 2:203420266 G / A
• gnomAD v2: 2-203420266-G-A
• gnomAD v4: 2-202555543-G-A
• MyVariant Identifiers: chr2:g.203420266G>A (hg19) ; chr2:g.202555543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555543G>A , CM000664.2:g.202555543G>A	GRCh38
NC_000002.11:g.203420266G>A , CM000664.1:g.203420266G>A	GRCh37
NC_000002.10:g.203128511G>A	NCBI36
NG_009363.1:g.184217G>A , LRG_712:g.184217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1878G>A MANE Select	ENSP00000363708.4:p.Met626Ile
ENST00000638587.1:c.1809G>A	ENSP00000491062.1:n.1809G>A
ENST00000374574.2:c.1586+2655G>A	ENSP00000363702.2:n.1586+2655G>A
ENST00000374580.8:c.1878G>A	ENSP00000363708.4:p.Met626Ile
NM_001204.6:c.1878G>A , LRG_712t1:c.1878G>A	NP_001195.2:p.Met626Ile
XM_011511687.1:c.1878G>A	XP_011509989.1:p.Met626Ile
XM_011511688.1:c.1586+2655G>A	XP_011509990.1:n.1586+2655G>A
NM_001204.7:c.1878G>A MANE Select	NP_001195.2:p.Met626Ile