Canonical Allele Identifier: CA430838900

Gene: BMPR2

Linked Data

• dbSNP Id: rs2106006767
• gnomAD v4: 2-202518830-C-T
• MyVariant Identifiers: chr2:g.203383553C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518830C>T , CM000664.2:g.202518830C>T	GRCh38
NC_000002.11:g.203383553C>T , CM000664.1:g.203383553C>T	GRCh37
NC_000002.10:g.203091798C>T	NCBI36
NG_009363.1:g.147504C>T , LRG_712:g.147504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.630C>T MANE Select	ENSP00000363708.4:p.Gly210=
ENST00000638587.1:c.561C>T	ENSP00000491062.1:p.Gly187=
ENST00000374574.2:c.630C>T	ENSP00000363702.2:p.Gly210=
ENST00000374580.8:c.630C>T	ENSP00000363708.4:p.Gly210=
NM_001204.6:c.630C>T , LRG_712t1:c.630C>T	NP_001195.2:p.Gly210=
XM_011511687.1:c.630C>T	XP_011509989.1:p.Gly210=
XM_011511688.1:c.630C>T	XP_011509990.1:p.Gly210=
NM_001204.7:c.630C>T MANE Select	NP_001195.2:p.Gly210=