Canonical Allele Identifier: CA10612479
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 333620
ClinVar RCV Id: RCV000368986
dbSNP Id: rs568136148
gnomAD v2: 2-203241268-G-GGCA
gnomAD v3: 2-202376545-G-GGCA
gnomAD v4: 2-202376545-G-GGCA
MyVariant Identifiers: chr2:g.203241277_203241279dupAGC (hg19) chr2:g.203241277_203241278insGCA (hg19) chr2:g.203241268_203241269insGCA (hg19) chr2:g.202376554_202376556dupAGC (hg38) chr2:g.202376554_202376555insGCA (hg38) chr2:g.202376545_202376546insGCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202376554_202376556dup , CM000664.2:g.202376554_202376556dup GRCh38
NC_000002.11:g.203241277_203241279dup , CM000664.1:g.203241277_203241279dup GRCh37
NC_000002.10:g.202949522_202949524dup NCBI36
NG_009363.1:g.5228_5230dup , LRG_712:g.5228_5230dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.-921_-919dup MANE Select ENSP00000363708.4:n.-921_-919dup
NM_001204.6:c.-921_-919dup , LRG_712t1:c.-921_-919dup NP_001195.2:n.-921_-919dup
XM_011511687.1:c.-921_-919dup XP_011509989.1:n.-921_-919dup
XM_011511688.1:c.-921_-919dup XP_011509990.1:n.-921_-919dup
NM_001204.7:c.-921_-919dup MANE Select NP_001195.2:n.-921_-919dup
Search 100 bp 5'
Search 100 bp 3'