Canonical Allele Identifier: CA10613573

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 333635
• ClinVar RCV Id: RCV001707659
• dbSNP Id: rs576966565
• gnomAD v2: 2-203241979-A-AC
• gnomAD v3: 2-202377256-A-AC
• gnomAD v4: 2-202377256-A-AC
• MyVariant Identifiers: chr2:g.203241986dupC (hg19) ; chr2:g.203241979_203241980insC (hg19) ; chr2:g.202377263dupC (hg38) ; chr2:g.202377256_202377257insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377263dup , CM000664.2:g.202377263dup	GRCh38
NC_000002.11:g.203241986dup , CM000664.1:g.203241986dup	GRCh37
NC_000002.10:g.202950231dup	NCBI36
NG_009363.1:g.5937dup , LRG_712:g.5937dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.-212dup MANE Select	ENSP00000363708.4:n.-212dup
ENST00000374580.8:c.-212dup	ENSP00000363708.4:n.-212dup
NM_001204.6:c.-212dup , LRG_712t1:c.-212dup	NP_001195.2:n.-212dup
XM_011511687.1:c.-212dup	XP_011509989.1:n.-212dup
XM_011511688.1:c.-212dup	XP_011509990.1:n.-212dup
NM_001204.7:c.-212dup MANE Select	NP_001195.2:n.-212dup