Canonical Allele Identifier: CA2061248
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2731605
ClinVar RCV Id: RCV003596821
dbSNP Id: rs199954814
ExAC: 2:203384871 C / T
gnomAD v2: 2-203384871-C-T
gnomAD v3: 2-202520148-C-T
gnomAD v4: 2-202520148-C-T
MyVariant Identifiers: chr2:g.203384871C>T (hg19) chr2:g.202520148C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520148C>T , CM000664.2:g.202520148C>T GRCh38
NC_000002.11:g.203384871C>T , CM000664.1:g.203384871C>T GRCh37
NC_000002.10:g.203093116C>T NCBI36
NG_009363.1:g.148822C>T , LRG_712:g.148822C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.914C>T MANE Select ENSP00000363708.4:p.Ala305Val
ENST00000638587.1:c.845C>T ENSP00000491062.1:p.Ala282Val
ENST00000374574.2:c.914C>T ENSP00000363702.2:p.Ala305Val
ENST00000374580.8:c.914C>T ENSP00000363708.4:p.Ala305Val
NM_001204.6:c.914C>T , LRG_712t1:c.914C>T NP_001195.2:p.Ala305Val
XM_011511687.1:c.914C>T XP_011509989.1:p.Ala305Val
XM_011511688.1:c.914C>T XP_011509990.1:p.Ala305Val
NM_001204.7:c.914C>T MANE Select NP_001195.2:p.Ala305Val
Search 100 bp 5'
Search 100 bp 3'