Canonical Allele Identifier: CA350399332

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 425710
• ClinVar RCV Id: RCV000488650
• dbSNP Id: rs1085307171
• MyVariant Identifiers: chr2:g.203329633T>C (hg19) ; chr2:g.202464910T>C (hg38)
• PubMed: PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464910T>C , CM000664.2:g.202464910T>C	GRCh38
NC_000002.11:g.203329633T>C , CM000664.1:g.203329633T>C	GRCh37
NC_000002.10:g.203037878T>C	NCBI36
NG_009363.1:g.93584T>C , LRG_712:g.93584T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.178T>C MANE Select	ENSP00000363708.4:p.Cys60Arg
ENST00000638587.1:c.103T>C	ENSP00000491062.1:p.Cys35Arg
ENST00000374574.2:c.178T>C	ENSP00000363702.2:p.Cys60Arg
ENST00000374580.8:c.178T>C	ENSP00000363708.4:p.Cys60Arg
ENST00000479069.1:n.85T>C
NM_001204.6:c.178T>C , LRG_712t1:c.178T>C	NP_001195.2:p.Cys60Arg
XM_011511687.1:c.178T>C	XP_011509989.1:p.Cys60Arg
XM_011511688.1:c.178T>C	XP_011509990.1:p.Cys60Arg
NM_001204.7:c.178T>C MANE Select	NP_001195.2:p.Cys60Arg