Canonical Allele Identifier: CA763427028
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1257976094
gnomAD v3: 2-202519873-TA-T
gnomAD v4: 2-202519873-TA-T
MyVariant Identifiers: chr2:g.203384597del (hg19) chr2:g.202519874del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519875del , CM000664.2:g.202519875del GRCh38
NC_000002.11:g.203384598del , CM000664.1:g.203384598del GRCh37
NC_000002.10:g.203092843del NCBI36
NG_009363.1:g.148549del , LRG_712:g.148549del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.853-212del MANE Select ENSP00000363708.4:n.853-212del
ENST00000638587.1:c.784-212del ENSP00000491062.1:n.784-212del
ENST00000374574.2:c.853-212del ENSP00000363702.2:n.853-212del
ENST00000374580.8:c.853-212del ENSP00000363708.4:n.853-212del
NM_001204.6:c.853-212del , LRG_712t1:c.853-212del NP_001195.2:n.853-212del
XM_011511687.1:c.853-212del XP_011509989.1:n.853-212del
XM_011511688.1:c.853-212del XP_011509990.1:n.853-212del
NM_001204.7:c.853-212del MANE Select NP_001195.2:n.853-212del
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