Canonical Allele Identifier: CA350348786
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1688568440
gnomAD v3: 2-202556203-G-A
gnomAD v4: 2-202556203-G-A
MyVariant Identifiers: chr2:g.203420926G>A (hg19) chr2:g.202556203G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556203G>A , CM000664.2:g.202556203G>A GRCh38
NC_000002.11:g.203420926G>A , CM000664.1:g.203420926G>A GRCh37
NC_000002.10:g.203129171G>A NCBI36
NG_009363.1:g.184877G>A , LRG_712:g.184877G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2538G>A MANE Select ENSP00000363708.4:p.Met846Ile
ENST00000638587.1:c.2469G>A ENSP00000491062.1:n.2469G>A
ENST00000374574.2:c.1586+3315G>A ENSP00000363702.2:n.1586+3315G>A
ENST00000374580.8:c.2538G>A ENSP00000363708.4:p.Met846Ile
NM_001204.6:c.2538G>A , LRG_712t1:c.2538G>A NP_001195.2:p.Met846Ile
XM_011511687.1:c.2538G>A XP_011509989.1:p.Met846Ile
XM_011511688.1:c.1586+3315G>A XP_011509990.1:n.1586+3315G>A
NM_001204.7:c.2538G>A MANE Select NP_001195.2:p.Met846Ile
Search 100 bp 5'
Search 100 bp 3'