Canonical Allele Identifier: CA350340627
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383761G>C (hg19) chr2:g.202519038G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519038G>C , CM000664.2:g.202519038G>C GRCh38
NC_000002.11:g.203383761G>C , CM000664.1:g.203383761G>C GRCh37
NC_000002.10:g.203092006G>C NCBI36
NG_009363.1:g.147712G>C , LRG_712:g.147712G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.838G>C MANE Select ENSP00000363708.4:p.Glu280Gln
ENST00000638587.1:c.769G>C ENSP00000491062.1:p.Glu257Gln
ENST00000374574.2:c.838G>C ENSP00000363702.2:p.Glu280Gln
ENST00000374580.8:c.838G>C ENSP00000363708.4:p.Glu280Gln
NM_001204.6:c.838G>C , LRG_712t1:c.838G>C NP_001195.2:p.Glu280Gln
XM_011511687.1:c.838G>C XP_011509989.1:p.Glu280Gln
XM_011511688.1:c.838G>C XP_011509990.1:p.Glu280Gln
NM_001204.7:c.838G>C MANE Select NP_001195.2:p.Glu280Gln
Search 100 bp 5'
Search 100 bp 3'