Canonical Allele Identifier: CA430892926
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs2105892163
MyVariant Identifiers: chr2:g.203242212G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377489G>A , CM000664.2:g.202377489G>A GRCh38
NC_000002.11:g.203242212G>A , CM000664.1:g.203242212G>A GRCh37
NC_000002.10:g.202950457G>A NCBI36
NG_009363.1:g.6163G>A , LRG_712:g.6163G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.15G>A MANE Select ENSP00000363708.4:p.Leu5=
ENST00000374574.2:c.15G>A ENSP00000363702.2:p.Leu5=
ENST00000374580.8:c.15G>A ENSP00000363708.4:p.Leu5=
NM_001204.6:c.15G>A , LRG_712t1:c.15G>A NP_001195.2:p.Leu5=
XM_011511687.1:c.15G>A XP_011509989.1:p.Leu5=
XM_011511688.1:c.15G>A XP_011509990.1:p.Leu5=
NM_001204.7:c.15G>A MANE Select NP_001195.2:p.Leu5=
Search 100 bp 5'
Search 100 bp 3'