Canonical Allele Identifier: CA763427601

Gene: BMPR2

Linked Data

• dbSNP Id: rs1448497998
• gnomAD v3: 2-202520262-TTTAA-T
• gnomAD v4: 2-202520262-TTTAA-T
• MyVariant Identifiers: chr2:g.203384986_203384989del (hg19) ; chr2:g.202520263_202520266del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520266_202520269del , CM000664.2:g.202520266_202520269del	GRCh38
NC_000002.11:g.203384989_203384992del , CM000664.1:g.203384989_203384992del	GRCh37
NC_000002.10:g.203093234_203093237del	NCBI36
NG_009363.1:g.148940_148943del , LRG_712:g.148940_148943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.967+65_967+68del MANE Select	ENSP00000363708.4:n.967+65_967+68del
ENST00000638587.1:c.898+65_898+68del	ENSP00000491062.1:n.898+65_898+68del
ENST00000374574.2:c.967+65_967+68del	ENSP00000363702.2:n.967+65_967+68del
ENST00000374580.8:c.967+65_967+68del	ENSP00000363708.4:n.967+65_967+68del
NM_001204.6:c.967+65_967+68del , LRG_712t1:c.967+65_967+68del	NP_001195.2:n.967+65_967+68del
XM_011511687.1:c.967+65_967+68del	XP_011509989.1:n.967+65_967+68del
XM_011511688.1:c.967+65_967+68del	XP_011509990.1:n.967+65_967+68del
NM_001204.7:c.967+65_967+68del MANE Select	NP_001195.2:n.967+65_967+68del