Canonical Allele Identifier: CA658655725

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 458623
• ClinVar RCV Id: RCV002231274
• dbSNP Id: rs1553509984
• MyVariant Identifiers: chr2:g.203397327del (hg19) ; chr2:g.202532604del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532604del , CM000664.2:g.202532604del	GRCh38
NC_000002.11:g.203397327del , CM000664.1:g.203397327del	GRCh37
NC_000002.10:g.203105572del	NCBI36
NG_009363.1:g.161278del , LRG_712:g.161278del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.1148del MANE Select	ENSP00000363708.4:p.Met383ArgfsTer6
ENST00000638587.1:c.1079del	ENSP00000491062.1:p.Met360ArgfsTer6
ENST00000374574.2:c.1148del	ENSP00000363702.2:p.Met383ArgfsTer6
ENST00000374580.8:c.1148del	ENSP00000363708.4:p.Met383ArgfsTer6
NM_001204.6:c.1148del , LRG_712t1:c.1148del	NP_001195.2:p.Met383ArgfsTer6
XM_011511687.1:c.1148del	XP_011509989.1:p.Met383ArgfsTer6
XM_011511688.1:c.1148del	XP_011509990.1:p.Met383ArgfsTer6
NM_001204.7:c.1148del MANE Select	NP_001195.2:p.Met383ArgfsTer6