Canonical Allele Identifier: CA763418815

Gene: BMPR2

Linked Data

• dbSNP Id: rs1245877281
• gnomAD v4: 2-202377168-A-G
• MyVariant Identifiers: chr2:g.203241891A>G (hg19) ; chr2:g.202377168A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377168A>G , CM000664.2:g.202377168A>G	GRCh38
NC_000002.11:g.203241891A>G , CM000664.1:g.203241891A>G	GRCh37
NC_000002.10:g.202950136A>G	NCBI36
NG_009363.1:g.5842A>G , LRG_712:g.5842A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689938.1:c.57A>G	ENSP00000510443.1:p.Ter19=
ENST00000374580.10:c.-307A>G MANE Select	ENSP00000363708.4:n.-307A>G
ENST00000374580.8:c.-307A>G	ENSP00000363708.4:n.-307A>G
NM_001204.6:c.-307A>G , LRG_712t1:c.-307A>G	NP_001195.2:n.-307A>G
XM_011511687.1:c.-307A>G	XP_011509989.1:n.-307A>G
XM_011511688.1:c.-307A>G	XP_011509990.1:n.-307A>G
NM_001204.7:c.-307A>G MANE Select	NP_001195.2:n.-307A>G