Canonical Allele Identifier: CA2573051842

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1339361
• ClinVar RCV Id: RCV001823957
• dbSNP Id: rs2105712268

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556122_202556129del , CM000664.2:g.202556122_202556129del	GRCh38
NC_000002.11:g.203420845_203420852del , CM000664.1:g.203420845_203420852del	GRCh37
NC_000002.10:g.203129090_203129097del	NCBI36
NG_009363.1:g.184796_184803del , LRG_712:g.184796_184803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2457_2464del MANE Select	ENSP00000363708.4:p.Ala820AsnfsTer20
ENST00000638587.1:c.2388_2395del	ENSP00000491062.1:n.2388_2395del
ENST00000374574.2:c.1586+3234_1586+3241del	ENSP00000363702.2:n.1586+3234_1586+3241del
ENST00000374580.8:c.2457_2464del	ENSP00000363708.4:p.Ala820AsnfsTer20
NM_001204.6:c.2457_2464del , LRG_712t1:c.2457_2464del	NP_001195.2:p.Ala820AsnfsTer20
XM_011511687.1:c.2457_2464del	XP_011509989.1:p.Ala820AsnfsTer20
XM_011511688.1:c.1586+3234_1586+3241del	XP_011509990.1:n.1586+3234_1586+3241del
NM_001204.7:c.2457_2464del MANE Select	NP_001195.2:p.Ala820AsnfsTer20