Canonical Allele Identifier: CA658796144

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 528331
• ClinVar RCV Id: RCV002234428
• dbSNP Id: rs1553509983
• MyVariant Identifiers: chr2:g.203397321_203397322dup (hg19) ; chr2:g.202532598_202532599dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532598_202532599dup , CM000664.2:g.202532598_202532599dup	GRCh38
NC_000002.11:g.203397321_203397322dup , CM000664.1:g.203397321_203397322dup	GRCh37
NC_000002.10:g.203105566_203105567dup	NCBI36
NG_009363.1:g.161272_161273dup , LRG_712:g.161272_161273dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1142_1143dup MANE Select	ENSP00000363708.4:p.Tyr382AspfsTer8
ENST00000638587.1:c.1073_1074dup	ENSP00000491062.1:p.Tyr359AspfsTer8
ENST00000374574.2:c.1142_1143dup	ENSP00000363702.2:p.Tyr382AspfsTer8
ENST00000374580.8:c.1142_1143dup	ENSP00000363708.4:p.Tyr382AspfsTer8
NM_001204.6:c.1142_1143dup , LRG_712t1:c.1142_1143dup	NP_001195.2:p.Tyr382AspfsTer8
XM_011511687.1:c.1142_1143dup	XP_011509989.1:p.Tyr382AspfsTer8
XM_011511688.1:c.1142_1143dup	XP_011509990.1:p.Tyr382AspfsTer8
NM_001204.7:c.1142_1143dup MANE Select	NP_001195.2:p.Tyr382AspfsTer8