Canonical Allele Identifier: CA350348020

Gene: BMPR2

Linked Data

• dbSNP Id: rs1373261101
• gnomAD v2: 2-203420679-A-C
• gnomAD v4: 2-202555956-A-C
• MyVariant Identifiers: chr2:g.203420679A>C (hg19) ; chr2:g.202555956A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555956A>C , CM000664.2:g.202555956A>C	GRCh38
NC_000002.11:g.203420679A>C , CM000664.1:g.203420679A>C	GRCh37
NC_000002.10:g.203128924A>C	NCBI36
NG_009363.1:g.184630A>C , LRG_712:g.184630A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2291A>C MANE Select	ENSP00000363708.4:p.Asn764Thr
ENST00000638587.1:c.2222A>C	ENSP00000491062.1:n.2222A>C
ENST00000374574.2:c.1586+3068A>C	ENSP00000363702.2:n.1586+3068A>C
ENST00000374580.8:c.2291A>C	ENSP00000363708.4:p.Asn764Thr
NM_001204.6:c.2291A>C , LRG_712t1:c.2291A>C	NP_001195.2:p.Asn764Thr
XM_011511687.1:c.2291A>C	XP_011509989.1:p.Asn764Thr
XM_011511688.1:c.1586+3068A>C	XP_011509990.1:n.1586+3068A>C
NM_001204.7:c.2291A>C MANE Select	NP_001195.2:p.Asn764Thr