Canonical Allele Identifier: CA763418917
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1322841551
gnomAD v3: 2-202377411-T-A
gnomAD v4: 2-202377411-T-A
MyVariant Identifiers: chr2:g.203242134T>A (hg19) chr2:g.202377411T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377411T>A , CM000664.2:g.202377411T>A GRCh38
NC_000002.11:g.203242134T>A , CM000664.1:g.203242134T>A GRCh37
NC_000002.10:g.202950379T>A NCBI36
NG_009363.1:g.6085T>A , LRG_712:g.6085T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.-64T>A MANE Select ENSP00000363708.4:n.-64T>A
ENST00000374580.8:c.-64T>A ENSP00000363708.4:n.-64T>A
NM_001204.6:c.-64T>A , LRG_712t1:c.-64T>A NP_001195.2:n.-64T>A
XM_011511687.1:c.-64T>A XP_011509989.1:n.-64T>A
XM_011511688.1:c.-64T>A XP_011509990.1:n.-64T>A
NM_001204.7:c.-64T>A MANE Select NP_001195.2:n.-64T>A
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