Canonical Allele Identifier: CA10612056
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 333658
ClinVar RCV Id: RCV000390450
dbSNP Id: rs886055473
gnomAD v4: 2-202560187-C-T
MyVariant Identifiers: chr2:g.203424910C>T (hg19) chr2:g.202560187C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202560187C>T , CM000664.2:g.202560187C>T GRCh38
NC_000002.11:g.203424910C>T , CM000664.1:g.203424910C>T GRCh37
NC_000002.10:g.203133155C>T NCBI36
NG_009363.1:g.188861C>T , LRG_712:g.188861C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.*241C>T MANE Select ENSP00000363708.4:n.*241C>T
ENST00000638587.1:c.3289C>T ENSP00000491062.1:n.3289C>T
ENST00000374574.2:c.*485C>T ENSP00000363702.2:n.*485C>T
ENST00000374580.8:c.*241C>T ENSP00000363708.4:n.*241C>T
NM_001204.6:c.*241C>T , LRG_712t1:c.*241C>T NP_001195.2:n.*241C>T
XM_011511687.1:c.*241C>T XP_011509989.1:n.*241C>T
NM_001204.7:c.*241C>T MANE Select NP_001195.2:n.*241C>T
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