Canonical Allele Identifier: CA2607238198
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v3: 2-202376526-C-CGGT
gnomAD v4: 2-202376526-C-CGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202376528_202376529insTGG , CM000664.2:g.202376528_202376529insTGG GRCh38
NC_000002.11:g.203241251_203241252insTGG , CM000664.1:g.203241251_203241252insTGG GRCh37
NC_000002.10:g.202949496_202949497insTGG NCBI36
NG_009363.1:g.5202_5203insTGG , LRG_712:g.5202_5203insTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-947_-946insTGG MANE Select ENSP00000363708.4:n.-947_-946insTGG
NM_001204.6:c.-947_-946insTGG , LRG_712t1:c.-947_-946insTGG NP_001195.2:n.-947_-946insTGG
XM_011511687.1:c.-947_-946insTGG XP_011509989.1:n.-947_-946insTGG
XM_011511688.1:c.-947_-946insTGG XP_011509990.1:n.-947_-946insTGG
NM_001204.7:c.-947_-946insTGG MANE Select NP_001195.2:n.-947_-946insTGG
Search 100 bp 5'
Search 100 bp 3'