Canonical Allele Identifier: CA763426971

Gene: BMPR2

Linked Data

• dbSNP Id: rs1324397221
• gnomAD v3: 2-202519786-TAC-T
• gnomAD v4: 2-202519786-TAC-T
• MyVariant Identifiers: chr2:g.203384510_203384511del (hg19) ; chr2:g.202519787_202519788del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202519789_202519790del , CM000664.2:g.202519789_202519790del	GRCh38
NC_000002.11:g.203384512_203384513del , CM000664.1:g.203384512_203384513del	GRCh37
NC_000002.10:g.203092757_203092758del	NCBI36
NG_009363.1:g.148463_148464del , LRG_712:g.148463_148464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.853-298_853-297del MANE Select	ENSP00000363708.4:n.853-298_853-297del
ENST00000638587.1:c.784-298_784-297del	ENSP00000491062.1:n.784-298_784-297del
ENST00000374574.2:c.853-298_853-297del	ENSP00000363702.2:n.853-298_853-297del
ENST00000374580.8:c.853-298_853-297del	ENSP00000363708.4:n.853-298_853-297del
NM_001204.6:c.853-298_853-297del , LRG_712t1:c.853-298_853-297del	NP_001195.2:n.853-298_853-297del
XM_011511687.1:c.853-298_853-297del	XP_011509989.1:n.853-298_853-297del
XM_011511688.1:c.853-298_853-297del	XP_011509990.1:n.853-298_853-297del
NM_001204.7:c.853-298_853-297del MANE Select	NP_001195.2:n.853-298_853-297del