Canonical Allele Identifier: CA2697551481
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2765933
ClinVar RCV Id: RCV003597123
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518998_202518999dup , CM000664.2:g.202518998_202518999dup GRCh38
NC_000002.11:g.203383721_203383722dup , CM000664.1:g.203383721_203383722dup GRCh37
NC_000002.10:g.203091966_203091967dup NCBI36
NG_009363.1:g.147672_147673dup , LRG_712:g.147672_147673dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.798_799dup MANE Select ENSP00000363708.4:p.Val267GlufsTer13
ENST00000638587.1:c.729_730dup ENSP00000491062.1:p.Val244GlufsTer13
ENST00000374574.2:c.798_799dup ENSP00000363702.2:p.Val267GlufsTer13
ENST00000374580.8:c.798_799dup ENSP00000363708.4:p.Val267GlufsTer13
NM_001204.6:c.798_799dup , LRG_712t1:c.798_799dup NP_001195.2:p.Val267GlufsTer13
XM_011511687.1:c.798_799dup XP_011509989.1:p.Val267GlufsTer13
XM_011511688.1:c.798_799dup XP_011509990.1:p.Val267GlufsTer13
NM_001204.7:c.798_799dup MANE Select NP_001195.2:p.Val267GlufsTer13
Search 100 bp 5'
Search 100 bp 3'