Canonical Allele Identifier: CA430840619

Gene: BMPR2 RPL13AP12

Linked Data

• gnomAD v4: 2-202520446-C-T
• MyVariant Identifiers: chr2:g.203385169C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520446C>T , CM000664.2:g.202520446C>T	GRCh38
NC_000002.11:g.203385169C>T , CM000664.1:g.203385169C>T	GRCh37
NC_000002.10:g.203093414C>T	NCBI36
NG_009363.1:g.149120C>T , LRG_712:g.149120C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.967+245C>T (BMPR2) MANE Select	ENSP00000363708.4:n.967+245C>T
ENST00000638587.1:c.898+245C>T (BMPR2)	ENSP00000491062.1:n.898+245C>T
ENST00000374574.2:c.967+245C>T (BMPR2)	ENSP00000363702.2:n.967+245C>T
ENST00000374580.8:c.967+245C>T (BMPR2)	ENSP00000363708.4:n.967+245C>T
ENST00000435125.1:n.46C>T (RPL13AP12)
NM_001204.6:c.967+245C>T , LRG_712t1:c.967+245C>T (BMPR2)	NP_001195.2:n.967+245C>T
XM_011511687.1:c.967+245C>T (BMPR2)	XP_011509989.1:n.967+245C>T
XM_011511688.1:c.967+245C>T (BMPR2)	XP_011509990.1:n.967+245C>T
NM_001204.7:c.967+245C>T (BMPR2) MANE Select	NP_001195.2:n.967+245C>T