Canonical Allele Identifier: CA350338990
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203379665A>C (hg19) chr2:g.202514942A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202514942A>C , CM000664.2:g.202514942A>C GRCh38
NC_000002.11:g.203379665A>C , CM000664.1:g.203379665A>C GRCh37
NC_000002.10:g.203087910A>C NCBI36
NG_009363.1:g.143616A>C , LRG_712:g.143616A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.584A>C MANE Select ENSP00000363708.4:p.Glu195Ala
ENST00000638587.1:c.515A>C ENSP00000491062.1:p.Glu172Ala
ENST00000374574.2:c.584A>C ENSP00000363702.2:p.Glu195Ala
ENST00000374580.8:c.584A>C ENSP00000363708.4:p.Glu195Ala
NM_001204.6:c.584A>C , LRG_712t1:c.584A>C NP_001195.2:p.Glu195Ala
XM_011511687.1:c.584A>C XP_011509989.1:p.Glu195Ala
XM_011511688.1:c.584A>C XP_011509990.1:p.Glu195Ala
NM_001204.7:c.584A>C MANE Select NP_001195.2:p.Glu195Ala
Search 100 bp 5'
Search 100 bp 3'