Canonical Allele Identifier: CA350340434

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203383676G>T (hg19) ; chr2:g.202518953G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518953G>T , CM000664.2:g.202518953G>T	GRCh38
NC_000002.11:g.203383676G>T , CM000664.1:g.203383676G>T	GRCh37
NC_000002.10:g.203091921G>T	NCBI36
NG_009363.1:g.147627G>T , LRG_712:g.147627G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.753G>T MANE Select	ENSP00000363708.4:p.Leu251Phe
ENST00000638587.1:c.684G>T	ENSP00000491062.1:p.Leu228Phe
ENST00000374574.2:c.753G>T	ENSP00000363702.2:p.Leu251Phe
ENST00000374580.8:c.753G>T	ENSP00000363708.4:p.Leu251Phe
NM_001204.6:c.753G>T , LRG_712t1:c.753G>T	NP_001195.2:p.Leu251Phe
XM_011511687.1:c.753G>T	XP_011509989.1:p.Leu251Phe
XM_011511688.1:c.753G>T	XP_011509990.1:p.Leu251Phe
NM_001204.7:c.753G>T MANE Select	NP_001195.2:p.Leu251Phe