Canonical Allele Identifier: CA350340497
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383704A>T (hg19) chr2:g.202518981A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518981A>T , CM000664.2:g.202518981A>T GRCh38
NC_000002.11:g.203383704A>T , CM000664.1:g.203383704A>T GRCh37
NC_000002.10:g.203091949A>T NCBI36
NG_009363.1:g.147655A>T , LRG_712:g.147655A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.781A>T MANE Select ENSP00000363708.4:p.Ile261Leu
ENST00000638587.1:c.712A>T ENSP00000491062.1:p.Ile238Leu
ENST00000374574.2:c.781A>T ENSP00000363702.2:p.Ile261Leu
ENST00000374580.8:c.781A>T ENSP00000363708.4:p.Ile261Leu
NM_001204.6:c.781A>T , LRG_712t1:c.781A>T NP_001195.2:p.Ile261Leu
XM_011511687.1:c.781A>T XP_011509989.1:p.Ile261Leu
XM_011511688.1:c.781A>T XP_011509990.1:p.Ile261Leu
NM_001204.7:c.781A>T MANE Select NP_001195.2:p.Ile261Leu
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