Canonical Allele Identifier: CA350337904

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203378459A>C (hg19) ; chr2:g.202513736A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202513736A>C , CM000664.2:g.202513736A>C	GRCh38
NC_000002.11:g.203378459A>C , CM000664.1:g.203378459A>C	GRCh37
NC_000002.10:g.203086704A>C	NCBI36
NG_009363.1:g.142410A>C , LRG_712:g.142410A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.436A>C MANE Select	ENSP00000363708.4:p.Asn146His
ENST00000638587.1:c.367A>C	ENSP00000491062.1:p.Asn123His
ENST00000374574.2:c.436A>C	ENSP00000363702.2:p.Asn146His
ENST00000374580.8:c.436A>C	ENSP00000363708.4:p.Asn146His
NM_001204.6:c.436A>C , LRG_712t1:c.436A>C	NP_001195.2:p.Asn146His
XM_011511687.1:c.436A>C	XP_011509989.1:p.Asn146His
XM_011511688.1:c.436A>C	XP_011509990.1:p.Asn146His
NM_001204.7:c.436A>C MANE Select	NP_001195.2:p.Asn146His