Canonical Allele Identifier: CA645294004
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425735
ClinVar RCV Id: RCV000488543
dbSNP Id: rs1085307192

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467514_202467519delinsAC , CM000664.2:g.202467514_202467519delinsAC GRCh38
NC_000002.11:g.203332237_203332242delinsAC , CM000664.1:g.203332237_203332242delinsAC GRCh37
NC_000002.10:g.203040482_203040487delinsAC NCBI36
NG_009363.1:g.96188_96193delinsAC , LRG_712:g.96188_96193delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.248-5_248delinsAC
ENST00000638587.1:c.179-5_179delinsAC
ENST00000374574.2:c.248-5_248delinsAC
ENST00000374580.8:c.248-5_248delinsAC
ENST00000479069.1:n.155-5_155delinsAC
NM_001204.6:c.248-5_248delinsAC , LRG_712t1:c.248-5_248delinsAC
XM_011511687.1:c.248-5_248delinsAC
XM_011511688.1:c.248-5_248delinsAC
NM_001204.7:c.248-5_248delinsAC