Canonical Allele Identifier: CA64522336

Gene: BMPR2

Linked Data

• dbSNP Id: rs1553584248
• gnomAD v2: 2-203241979-A-AT
• gnomAD v3: 2-202377256-A-AT
• gnomAD v4: 2-202377256-A-AT
• MyVariant Identifiers: chr2:g.203241979_203241980insT (hg19) ; chr2:g.202377256_202377257insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377256_202377257insT , CM000664.2:g.202377256_202377257insT	GRCh38
NC_000002.11:g.203241979_203241980insT , CM000664.1:g.203241979_203241980insT	GRCh37
NC_000002.10:g.202950224_202950225insT	NCBI36
NG_009363.1:g.5930_5931insT , LRG_712:g.5930_5931insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.-219_-218insT MANE Select	ENSP00000363708.4:n.-219_-218insT
ENST00000374580.8:c.-219_-218insT	ENSP00000363708.4:n.-219_-218insT
NM_001204.6:c.-219_-218insT , LRG_712t1:c.-219_-218insT	NP_001195.2:n.-219_-218insT
XM_011511687.1:c.-219_-218insT	XP_011509989.1:n.-219_-218insT
XM_011511688.1:c.-219_-218insT	XP_011509990.1:n.-219_-218insT
NM_001204.7:c.-219_-218insT MANE Select	NP_001195.2:n.-219_-218insT