Canonical Allele Identifier: CA2662703811
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v4: 2-202377557-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377557A>G , CM000664.2:g.202377557A>G GRCh38
NC_000002.11:g.203242280A>G , CM000664.1:g.203242280A>G GRCh37
NC_000002.10:g.202950525A>G NCBI36
NG_009363.1:g.6231A>G , LRG_712:g.6231A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.76+7A>G MANE Select ENSP00000363708.4:n.76+7A>G
ENST00000374574.2:c.76+7A>G ENSP00000363702.2:n.76+7A>G
ENST00000374580.8:c.76+7A>G ENSP00000363708.4:n.76+7A>G
NM_001204.6:c.76+7A>G , LRG_712t1:c.76+7A>G NP_001195.2:n.76+7A>G
XM_011511687.1:c.76+7A>G XP_011509989.1:n.76+7A>G
XM_011511688.1:c.76+7A>G XP_011509990.1:n.76+7A>G
NM_001204.7:c.76+7A>G MANE Select NP_001195.2:n.76+7A>G
Search 100 bp 5'
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