Canonical Allele Identifier: CA430840523
Gene: BMPR2 HGNC NCBI
RPL13AP12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203385136G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520413G>A , CM000664.2:g.202520413G>A GRCh38
NC_000002.11:g.203385136G>A , CM000664.1:g.203385136G>A GRCh37
NC_000002.10:g.203093381G>A NCBI36
NG_009363.1:g.149087G>A , LRG_712:g.149087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.967+212G>A (BMPR2) MANE Select ENSP00000363708.4:n.967+212G>A
ENST00000638587.1:c.898+212G>A (BMPR2) ENSP00000491062.1:n.898+212G>A
ENST00000374574.2:c.967+212G>A (BMPR2) ENSP00000363702.2:n.967+212G>A
ENST00000374580.8:c.967+212G>A (BMPR2) ENSP00000363708.4:n.967+212G>A
ENST00000435125.1:n.13G>A (RPL13AP12)
NM_001204.6:c.967+212G>A , LRG_712t1:c.967+212G>A (BMPR2) NP_001195.2:n.967+212G>A
XM_011511687.1:c.967+212G>A (BMPR2) XP_011509989.1:n.967+212G>A
XM_011511688.1:c.967+212G>A (BMPR2) XP_011509990.1:n.967+212G>A
NM_001204.7:c.967+212G>A (BMPR2) MANE Select NP_001195.2:n.967+212G>A