Canonical Allele Identifier: CA350340453

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203383683C>T (hg19) ; chr2:g.202518960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518960C>T , CM000664.2:g.202518960C>T	GRCh38
NC_000002.11:g.203383683C>T , CM000664.1:g.203383683C>T	GRCh37
NC_000002.10:g.203091928C>T	NCBI36
NG_009363.1:g.147634C>T , LRG_712:g.147634C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.760C>T MANE Select	ENSP00000363708.4:p.His254Tyr
ENST00000638587.1:c.691C>T	ENSP00000491062.1:p.His231Tyr
ENST00000374574.2:c.760C>T	ENSP00000363702.2:p.His254Tyr
ENST00000374580.8:c.760C>T	ENSP00000363708.4:p.His254Tyr
NM_001204.6:c.760C>T , LRG_712t1:c.760C>T	NP_001195.2:p.His254Tyr
XM_011511687.1:c.760C>T	XP_011509989.1:p.His254Tyr
XM_011511688.1:c.760C>T	XP_011509990.1:p.His254Tyr
NM_001204.7:c.760C>T MANE Select	NP_001195.2:p.His254Tyr