Canonical Allele Identifier: CA2662705584
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v4: 2-202518710-CTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518712_202518713del , CM000664.2:g.202518712_202518713del GRCh38
NC_000002.11:g.203383435_203383436del , CM000664.1:g.203383435_203383436del GRCh37
NC_000002.10:g.203091680_203091681del NCBI36
NG_009363.1:g.147386_147387del , LRG_712:g.147386_147387del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.622-110_622-109del MANE Select ENSP00000363708.4:n.622-110_622-109del
ENST00000638587.1:c.553-110_553-109del ENSP00000491062.1:n.553-110_553-109del
ENST00000374574.2:c.622-110_622-109del ENSP00000363702.2:n.622-110_622-109del
ENST00000374580.8:c.622-110_622-109del ENSP00000363708.4:n.622-110_622-109del
NM_001204.6:c.622-110_622-109del , LRG_712t1:c.622-110_622-109del NP_001195.2:n.622-110_622-109del
XM_011511687.1:c.622-110_622-109del XP_011509989.1:n.622-110_622-109del
XM_011511688.1:c.622-110_622-109del XP_011509990.1:n.622-110_622-109del
NM_001204.7:c.622-110_622-109del MANE Select NP_001195.2:n.622-110_622-109del
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