Canonical Allele Identifier: CA1041341592
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1687768852
gnomAD v3: 2-202518884-T-TG
gnomAD v4: 2-202518884-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518885dup , CM000664.2:g.202518885dup GRCh38
NC_000002.11:g.203383608dup , CM000664.1:g.203383608dup GRCh37
NC_000002.10:g.203091853dup NCBI36
NG_009363.1:g.147559dup , LRG_712:g.147559dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.685dup MANE Select ENSP00000363708.4:p.Val229GlyfsTer27
ENST00000638587.1:c.616dup ENSP00000491062.1:p.Val206GlyfsTer27
ENST00000374574.2:c.685dup ENSP00000363702.2:p.Val229GlyfsTer27
ENST00000374580.8:c.685dup ENSP00000363708.4:p.Val229GlyfsTer27
NM_001204.6:c.685dup , LRG_712t1:c.685dup NP_001195.2:p.Val229GlyfsTer27
XM_011511687.1:c.685dup XP_011509989.1:p.Val229GlyfsTer27
XM_011511688.1:c.685dup XP_011509990.1:p.Val229GlyfsTer27
NM_001204.7:c.685dup MANE Select NP_001195.2:p.Val229GlyfsTer27
Search 100 bp 5'
Search 100 bp 3'