Canonical Allele Identifier: CA2061085

Gene: BMPR2

Linked Data

• dbSNP Id: rs750321249
• ExAC: 2:203332297 AACT / A
• gnomAD v2: 2-203332297-AACT-A
• gnomAD v4: 2-202467574-AACT-A
• MyVariant Identifiers: chr2:g.203332298_203332300del (hg19) ; chr2:g.202467575_202467577del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467577_202467579del , CM000664.2:g.202467577_202467579del	GRCh38
NC_000002.11:g.203332300_203332302del , CM000664.1:g.203332300_203332302del	GRCh37
NC_000002.10:g.203040545_203040547del	NCBI36
NG_009363.1:g.96251_96253del , LRG_712:g.96251_96253del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.306_308del MANE Select	ENSP00000363708.4:p.Thr103del
ENST00000638587.1:c.237_239del	ENSP00000491062.1:p.Thr80del
ENST00000374574.2:c.306_308del	ENSP00000363702.2:p.Thr103del
ENST00000374580.8:c.306_308del	ENSP00000363708.4:p.Thr103del
ENST00000479069.1:n.213_215del
NM_001204.6:c.306_308del , LRG_712t1:c.306_308del	NP_001195.2:p.Thr103del
XM_011511687.1:c.306_308del	XP_011509989.1:p.Thr103del
XM_011511688.1:c.306_308del	XP_011509990.1:p.Thr103del
NM_001204.7:c.306_308del MANE Select	NP_001195.2:p.Thr103del