Canonical Allele Identifier: CA350338765

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203379632A>C (hg19) ; chr2:g.202514909A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202514909A>C , CM000664.2:g.202514909A>C	GRCh38
NC_000002.11:g.203379632A>C , CM000664.1:g.203379632A>C	GRCh37
NC_000002.10:g.203087877A>C	NCBI36
NG_009363.1:g.143583A>C , LRG_712:g.143583A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.551A>C MANE Select	ENSP00000363708.4:p.His184Pro
ENST00000638587.1:c.482A>C	ENSP00000491062.1:p.His161Pro
ENST00000374574.2:c.551A>C	ENSP00000363702.2:p.His184Pro
ENST00000374580.8:c.551A>C	ENSP00000363708.4:p.His184Pro
NM_001204.6:c.551A>C , LRG_712t1:c.551A>C	NP_001195.2:p.His184Pro
XM_011511687.1:c.551A>C	XP_011509989.1:p.His184Pro
XM_011511688.1:c.551A>C	XP_011509990.1:p.His184Pro
NM_001204.7:c.551A>C MANE Select	NP_001195.2:p.His184Pro