Canonical Allele Identifier: CA430847709

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 2651826
• ClinVar RCV Id: RCV003440135
• dbSNP Id: rs1213654596
• gnomAD v2: 2-203395602-C-T
• gnomAD v3: 2-202530879-C-T
• gnomAD v4: 2-202530879-C-T
• MyVariant Identifiers: chr2:g.203395602C>T (hg19) ; chr2:g.202530879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202530879C>T , CM000664.2:g.202530879C>T	GRCh38
NC_000002.11:g.203395602C>T , CM000664.1:g.203395602C>T	GRCh37
NC_000002.10:g.203103847C>T	NCBI36
NG_009363.1:g.159553C>T , LRG_712:g.159553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1053C>T MANE Select	ENSP00000363708.4:p.Asp351=
ENST00000638587.1:c.984C>T	ENSP00000491062.1:p.Asp328=
ENST00000374574.2:c.1053C>T	ENSP00000363702.2:p.Asp351=
ENST00000374580.8:c.1053C>T	ENSP00000363708.4:p.Asp351=
NM_001204.6:c.1053C>T , LRG_712t1:c.1053C>T	NP_001195.2:p.Asp351=
XM_011511687.1:c.1053C>T	XP_011509989.1:p.Asp351=
XM_011511688.1:c.1053C>T	XP_011509990.1:p.Asp351=
NM_001204.7:c.1053C>T MANE Select	NP_001195.2:p.Asp351=