Canonical Allele Identifier: CA350350065
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.202556546del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556546del , CM000664.2:g.202556546del GRCh38
NC_000002.11:g.203421269del , CM000664.1:g.203421269del GRCh37
NC_000002.10:g.203129514del NCBI36
NG_009363.1:g.185220del , LRG_712:g.185220del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2866+15del MANE Select ENSP00000363708.4:n.2866+15del
ENST00000638587.1:c.2797+15del ENSP00000491062.1:n.2797+15del
ENST00000374574.2:c.1587-3150del ENSP00000363702.2:n.1587-3150del
ENST00000374580.8:c.2866+15del ENSP00000363708.4:n.2866+15del
NM_001204.6:c.2866+15del , LRG_712t1:c.2866+15del NP_001195.2:n.2866+15del
XM_011511687.1:c.2866+15del XP_011509989.1:n.2866+15del
XM_011511688.1:c.1587-3150del XP_011509990.1:n.1587-3150del
NM_001204.7:c.2866+15del MANE Select NP_001195.2:n.2866+15del
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