Canonical Allele Identifier: CA350399150

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202464854-A-G
• MyVariant Identifiers: chr2:g.203329577A>G (hg19) ; chr2:g.202464854A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464854A>G , CM000664.2:g.202464854A>G	GRCh38
NC_000002.11:g.203329577A>G , CM000664.1:g.203329577A>G	GRCh37
NC_000002.10:g.203037822A>G	NCBI36
NG_009363.1:g.93528A>G , LRG_712:g.93528A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.122A>G MANE Select	ENSP00000363708.4:p.Gln41Arg
ENST00000638587.1:c.47A>G	ENSP00000491062.1:p.Gln16Arg
ENST00000374574.2:c.122A>G	ENSP00000363702.2:p.Gln41Arg
ENST00000374580.8:c.122A>G	ENSP00000363708.4:p.Gln41Arg
ENST00000479069.1:n.29A>G
NM_001204.6:c.122A>G , LRG_712t1:c.122A>G	NP_001195.2:p.Gln41Arg
XM_011511687.1:c.122A>G	XP_011509989.1:p.Gln41Arg
XM_011511688.1:c.122A>G	XP_011509990.1:p.Gln41Arg
NM_001204.7:c.122A>G MANE Select	NP_001195.2:p.Gln41Arg