Canonical Allele Identifier: CA2662703824
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v4: 2-202377571-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377571C>T , CM000664.2:g.202377571C>T GRCh38
NC_000002.11:g.203242294C>T , CM000664.1:g.203242294C>T GRCh37
NC_000002.10:g.202950539C>T NCBI36
NG_009363.1:g.6245C>T , LRG_712:g.6245C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.76+21C>T MANE Select ENSP00000363708.4:n.76+21C>T
ENST00000374574.2:c.76+21C>T ENSP00000363702.2:n.76+21C>T
ENST00000374580.8:c.76+21C>T ENSP00000363708.4:n.76+21C>T
NM_001204.6:c.76+21C>T , LRG_712t1:c.76+21C>T NP_001195.2:n.76+21C>T
XM_011511687.1:c.76+21C>T XP_011509989.1:n.76+21C>T
XM_011511688.1:c.76+21C>T XP_011509990.1:n.76+21C>T
NM_001204.7:c.76+21C>T MANE Select NP_001195.2:n.76+21C>T
Search 100 bp 5'
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