Canonical Allele Identifier: CA350396559

Gene: BMPR2

Linked Data

• dbSNP Id: rs1690174755
• gnomAD v4: 2-202377488-T-G
• MyVariant Identifiers: chr2:g.203242211T>G (hg19) ; chr2:g.202377488T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377488T>G , CM000664.2:g.202377488T>G	GRCh38
NC_000002.11:g.203242211T>G , CM000664.1:g.203242211T>G	GRCh37
NC_000002.10:g.202950456T>G	NCBI36
NG_009363.1:g.6162T>G , LRG_712:g.6162T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.14T>G MANE Select	ENSP00000363708.4:p.Leu5Arg
ENST00000374574.2:c.14T>G	ENSP00000363702.2:p.Leu5Arg
ENST00000374580.8:c.14T>G	ENSP00000363708.4:p.Leu5Arg
NM_001204.6:c.14T>G , LRG_712t1:c.14T>G	NP_001195.2:p.Leu5Arg
XM_011511687.1:c.14T>G	XP_011509989.1:p.Leu5Arg
XM_011511688.1:c.14T>G	XP_011509990.1:p.Leu5Arg
NM_001204.7:c.14T>G MANE Select	NP_001195.2:p.Leu5Arg