Canonical Allele Identifier: CA10587995
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 264653
ClinVar RCV Id: RCV000246386
dbSNP Id: rs886039222
MyVariant Identifiers: chr2:g.203417494C>T (hg19) chr2:g.202552771C>T (hg38)
PubMed: PMID:16429395 PMID:16717148 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552771C>T , CM000664.2:g.202552771C>T GRCh38
NC_000002.11:g.203417494C>T , CM000664.1:g.203417494C>T GRCh37
NC_000002.10:g.203125739C>T NCBI36
NG_009363.1:g.181445C>T , LRG_712:g.181445C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1469C>T MANE Select ENSP00000363708.4:p.Ala490Val
ENST00000638587.1:c.1400C>T ENSP00000491062.1:p.Ala467Val
ENST00000374574.2:c.1469C>T ENSP00000363702.2:p.Ala490Val
ENST00000374580.8:c.1469C>T ENSP00000363708.4:p.Ala490Val
NM_001204.6:c.1469C>T , LRG_712t1:c.1469C>T NP_001195.2:p.Ala490Val
XM_011511687.1:c.1469C>T XP_011509989.1:p.Ala490Val
XM_011511688.1:c.1469C>T XP_011509990.1:p.Ala490Val
NM_001204.7:c.1469C>T MANE Select NP_001195.2:p.Ala490Val
Search 100 bp 5'
Search 100 bp 3'