Canonical Allele Identifier: CA350340399
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383659A>G (hg19) chr2:g.202518936A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518936A>G , CM000664.2:g.202518936A>G GRCh38
NC_000002.11:g.203383659A>G , CM000664.1:g.203383659A>G GRCh37
NC_000002.10:g.203091904A>G NCBI36
NG_009363.1:g.147610A>G , LRG_712:g.147610A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.736A>G MANE Select ENSP00000363708.4:p.Ile246Val
ENST00000638587.1:c.667A>G ENSP00000491062.1:p.Ile223Val
ENST00000374574.2:c.736A>G ENSP00000363702.2:p.Ile246Val
ENST00000374580.8:c.736A>G ENSP00000363708.4:p.Ile246Val
NM_001204.6:c.736A>G , LRG_712t1:c.736A>G NP_001195.2:p.Ile246Val
XM_011511687.1:c.736A>G XP_011509989.1:p.Ile246Val
XM_011511688.1:c.736A>G XP_011509990.1:p.Ile246Val
NM_001204.7:c.736A>G MANE Select NP_001195.2:p.Ile246Val
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