Canonical Allele Identifier: CA350399373
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425716
ClinVar RCV Id: RCV000488696
dbSNP Id: rs1085307175
MyVariant Identifiers: chr2:g.203329651T>C (hg19) chr2:g.202464928T>C (hg38)
PubMed: PMID:15055271 PMID:19223935 PMID:20002458 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464928T>C , CM000664.2:g.202464928T>C GRCh38
NC_000002.11:g.203329651T>C , CM000664.1:g.203329651T>C GRCh37
NC_000002.10:g.203037896T>C NCBI36
NG_009363.1:g.93602T>C , LRG_712:g.93602T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.196T>C MANE Select ENSP00000363708.4:p.Cys66Arg
ENST00000638587.1:c.121T>C ENSP00000491062.1:p.Cys41Arg
ENST00000374574.2:c.196T>C ENSP00000363702.2:p.Cys66Arg
ENST00000374580.8:c.196T>C ENSP00000363708.4:p.Cys66Arg
ENST00000479069.1:n.103T>C
NM_001204.6:c.196T>C , LRG_712t1:c.196T>C NP_001195.2:p.Cys66Arg
XM_011511687.1:c.196T>C XP_011509989.1:p.Cys66Arg
XM_011511688.1:c.196T>C XP_011509990.1:p.Cys66Arg
NM_001204.7:c.196T>C MANE Select NP_001195.2:p.Cys66Arg
Search 100 bp 5'
Search 100 bp 3'