Canonical Allele Identifier: CA2061322

Gene: BMPR2

Linked Data

• dbSNP Id: rs779322808
• ExAC: 2:203397447 TCTTCCCA / T
• gnomAD v2: 2-203397447-TCTTCCCA-T
• MyVariant Identifiers: chr2:g.203397448_203397454del (hg19) ; chr2:g.202532725_202532731del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532725_202532731del , CM000664.2:g.202532725_202532731del	GRCh38
NC_000002.11:g.203397448_203397454del , CM000664.1:g.203397448_203397454del	GRCh37
NC_000002.10:g.203105693_203105699del	NCBI36
NG_009363.1:g.161399_161405del , LRG_712:g.161399_161405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1269_1275del MANE Select	ENSP00000363708.4:p.Phe424GlyfsTer?
ENST00000638587.1:c.1200_1206del	ENSP00000491062.1:p.Phe401GlyfsTer?
ENST00000374574.2:c.1269_1275del	ENSP00000363702.2:p.Phe424GlyfsTer?
ENST00000374580.8:c.1269_1275del	ENSP00000363708.4:p.Phe424GlyfsTer?
NM_001204.6:c.1269_1275del , LRG_712t1:c.1269_1275del	NP_001195.2:p.Phe424GlyfsTer?
XM_011511687.1:c.1269_1275del	XP_011509989.1:p.Phe424GlyfsTer?
XM_011511688.1:c.1269_1275del	XP_011509990.1:p.Phe424GlyfsTer?
NM_001204.7:c.1269_1275del MANE Select	NP_001195.2:p.Phe424GlyfsTer?