Canonical Allele Identifier: CA645293988
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425691
ClinVar RCV Id: RCV000488465
dbSNP Id: rs1085307158

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464774_202464818del , CM000664.2:g.202464774_202464818del GRCh38
NC_000002.11:g.203329497_203329541del , CM000664.1:g.203329497_203329541del GRCh37
NC_000002.10:g.203037742_203037786del NCBI36
NG_009363.1:g.93448_93492del , LRG_712:g.93448_93492del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.77-35_86del
ENST00000374574.2:c.77-35_86del
ENST00000374580.8:c.77-35_86del
NM_001204.6:c.77-35_86del , LRG_712t1:c.77-35_86del
XM_011511687.1:c.77-35_86del
XM_011511688.1:c.77-35_86del
NM_001204.7:c.77-35_86del