Canonical Allele Identifier: CA430840424
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203384854A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520131A>C , CM000664.2:g.202520131A>C GRCh38
NC_000002.11:g.203384854A>C , CM000664.1:g.203384854A>C GRCh37
NC_000002.10:g.203093099A>C NCBI36
NG_009363.1:g.148805A>C , LRG_712:g.148805A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.897A>C MANE Select ENSP00000363708.4:p.Val299=
ENST00000638587.1:c.828A>C ENSP00000491062.1:p.Val276=
ENST00000374574.2:c.897A>C ENSP00000363702.2:p.Val299=
ENST00000374580.8:c.897A>C ENSP00000363708.4:p.Val299=
NM_001204.6:c.897A>C , LRG_712t1:c.897A>C NP_001195.2:p.Val299=
XM_011511687.1:c.897A>C XP_011509989.1:p.Val299=
XM_011511688.1:c.897A>C XP_011509990.1:p.Val299=
NM_001204.7:c.897A>C MANE Select NP_001195.2:p.Val299=
Search 100 bp 5'
Search 100 bp 3'