Canonical Allele Identifier: CA350399755

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203332353C>T (hg19) ; chr2:g.202467630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467630C>T , CM000664.2:g.202467630C>T	GRCh38
NC_000002.11:g.203332353C>T , CM000664.1:g.203332353C>T	GRCh37
NC_000002.10:g.203040598C>T	NCBI36
NG_009363.1:g.96304C>T , LRG_712:g.96304C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.359C>T MANE Select	ENSP00000363708.4:p.Thr120Ile
ENST00000638587.1:c.290C>T	ENSP00000491062.1:p.Thr97Ile
ENST00000374574.2:c.359C>T	ENSP00000363702.2:p.Thr120Ile
ENST00000374580.8:c.359C>T	ENSP00000363708.4:p.Thr120Ile
ENST00000479069.1:n.266C>T
NM_001204.6:c.359C>T , LRG_712t1:c.359C>T	NP_001195.2:p.Thr120Ile
XM_011511687.1:c.359C>T	XP_011509989.1:p.Thr120Ile
XM_011511688.1:c.359C>T	XP_011509990.1:p.Thr120Ile
NM_001204.7:c.359C>T MANE Select	NP_001195.2:p.Thr120Ile