Canonical Allele Identifier: CA2573134357

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1679366
• ClinVar RCV Id: RCV002226963
• dbSNP Id: rs2105712267

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556119_202556120del , CM000664.2:g.202556119_202556120del	GRCh38
NC_000002.11:g.203420842_203420843del , CM000664.1:g.203420842_203420843del	GRCh37
NC_000002.10:g.203129087_203129088del	NCBI36
NG_009363.1:g.184793_184794del , LRG_712:g.184793_184794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2454_2455del MANE Select	ENSP00000363708.4:p.His819CysfsTer23
ENST00000638587.1:c.2385_2386del	ENSP00000491062.1:n.2385_2386del
ENST00000374574.2:c.1586+3231_1586+3232del	ENSP00000363702.2:n.1586+3231_1586+3232del
ENST00000374580.8:c.2454_2455del	ENSP00000363708.4:p.His819CysfsTer23
NM_001204.6:c.2454_2455del , LRG_712t1:c.2454_2455del	NP_001195.2:p.His819CysfsTer23
XM_011511687.1:c.2454_2455del	XP_011509989.1:p.His819CysfsTer23
XM_011511688.1:c.1586+3231_1586+3232del	XP_011509990.1:n.1586+3231_1586+3232del
NM_001204.7:c.2454_2455del MANE Select	NP_001195.2:p.His819CysfsTer23