Canonical Allele Identifier: CA2662705656
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v4: 2-202519127-TAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519128_202519129del , CM000664.2:g.202519128_202519129del GRCh38
NC_000002.11:g.203383851_203383852del , CM000664.1:g.203383851_203383852del GRCh37
NC_000002.10:g.203092096_203092097del NCBI36
NG_009363.1:g.147802_147803del , LRG_712:g.147802_147803del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.852+76_852+77del MANE Select ENSP00000363708.4:n.852+76_852+77del
ENST00000638587.1:c.783+76_783+77del ENSP00000491062.1:n.783+76_783+77del
ENST00000374574.2:c.852+76_852+77del ENSP00000363702.2:n.852+76_852+77del
ENST00000374580.8:c.852+76_852+77del ENSP00000363708.4:n.852+76_852+77del
NM_001204.6:c.852+76_852+77del , LRG_712t1:c.852+76_852+77del NP_001195.2:n.852+76_852+77del
XM_011511687.1:c.852+76_852+77del XP_011509989.1:n.852+76_852+77del
XM_011511688.1:c.852+76_852+77del XP_011509990.1:n.852+76_852+77del
NM_001204.7:c.852+76_852+77del MANE Select NP_001195.2:n.852+76_852+77del
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