Canonical Allele Identifier: CA2061271

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 696596
• ClinVar RCV Id: RCV000863024 ; RCV001420973 ; RCV004029324
• dbSNP Id: rs149225691
• ExAC: 2:203395530 T / C
• gnomAD v2: 2-203395530-T-C
• gnomAD v3: 2-202530807-T-C
• gnomAD v4: 2-202530807-T-C
• COSMIC: COSM3990983
• MyVariant Identifiers: chr2:g.203395530T>C (hg19) ; chr2:g.202530807T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202530807T>C , CM000664.2:g.202530807T>C	GRCh38
NC_000002.11:g.203395530T>C , CM000664.1:g.203395530T>C	GRCh37
NC_000002.10:g.203103775T>C	NCBI36
NG_009363.1:g.159481T>C , LRG_712:g.159481T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.981T>C MANE Select	ENSP00000363708.4:p.Pro327=
ENST00000638587.1:c.912T>C	ENSP00000491062.1:p.Pro304=
ENST00000374574.2:c.981T>C	ENSP00000363702.2:p.Pro327=
ENST00000374580.8:c.981T>C	ENSP00000363708.4:p.Pro327=
NM_001204.6:c.981T>C , LRG_712t1:c.981T>C	NP_001195.2:p.Pro327=
XM_011511687.1:c.981T>C	XP_011509989.1:p.Pro327=
XM_011511688.1:c.981T>C	XP_011509990.1:p.Pro327=
NM_001204.7:c.981T>C MANE Select	NP_001195.2:p.Pro327=