Canonical Allele Identifier: CA2061015
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2156179
ClinVar RCV Id: RCV003090852
dbSNP Id: rs768095940
ExAC: 2:203242281 G / C
gnomAD v2: 2-203242281-G-C
gnomAD v3: 2-202377558-G-C
gnomAD v4: 2-202377558-G-C
MyVariant Identifiers: chr2:g.203242281G>C (hg19) chr2:g.202377558G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377558G>C , CM000664.2:g.202377558G>C GRCh38
NC_000002.11:g.203242281G>C , CM000664.1:g.203242281G>C GRCh37
NC_000002.10:g.202950526G>C NCBI36
NG_009363.1:g.6232G>C , LRG_712:g.6232G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.76+8G>C MANE Select ENSP00000363708.4:n.76+8G>C
ENST00000374574.2:c.76+8G>C ENSP00000363702.2:n.76+8G>C
ENST00000374580.8:c.76+8G>C ENSP00000363708.4:n.76+8G>C
NM_001204.6:c.76+8G>C , LRG_712t1:c.76+8G>C NP_001195.2:n.76+8G>C
XM_011511687.1:c.76+8G>C XP_011509989.1:n.76+8G>C
XM_011511688.1:c.76+8G>C XP_011509990.1:n.76+8G>C
NM_001204.7:c.76+8G>C MANE Select NP_001195.2:n.76+8G>C
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