Canonical Allele Identifier: CA763417578
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1286329962
gnomAD v3: 2-202464746-G-A
gnomAD v4: 2-202464746-G-A
MyVariant Identifiers: chr2:g.203329469G>A (hg19) chr2:g.202464746G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464746G>A , CM000664.2:g.202464746G>A GRCh38
NC_000002.11:g.203329469G>A , CM000664.1:g.203329469G>A GRCh37
NC_000002.10:g.203037714G>A NCBI36
NG_009363.1:g.93420G>A , LRG_712:g.93420G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.77-63G>A MANE Select ENSP00000363708.4:n.77-63G>A
ENST00000374574.2:c.77-63G>A ENSP00000363702.2:n.77-63G>A
ENST00000374580.8:c.77-63G>A ENSP00000363708.4:n.77-63G>A
NM_001204.6:c.77-63G>A , LRG_712t1:c.77-63G>A NP_001195.2:n.77-63G>A
XM_011511687.1:c.77-63G>A XP_011509989.1:n.77-63G>A
XM_011511688.1:c.77-63G>A XP_011509990.1:n.77-63G>A
NM_001204.7:c.77-63G>A MANE Select NP_001195.2:n.77-63G>A
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