Canonical Allele Identifier: CA350340823

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203384877C>A (hg19) ; chr2:g.202520154C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520154C>A , CM000664.2:g.202520154C>A	GRCh38
NC_000002.11:g.203384877C>A , CM000664.1:g.203384877C>A	GRCh37
NC_000002.10:g.203093122C>A	NCBI36
NG_009363.1:g.148828C>A , LRG_712:g.148828C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.920C>A MANE Select	ENSP00000363708.4:p.Ser307Tyr
ENST00000638587.1:c.851C>A	ENSP00000491062.1:p.Ser284Tyr
ENST00000374574.2:c.920C>A	ENSP00000363702.2:p.Ser307Tyr
ENST00000374580.8:c.920C>A	ENSP00000363708.4:p.Ser307Tyr
NM_001204.6:c.920C>A , LRG_712t1:c.920C>A	NP_001195.2:p.Ser307Tyr
XM_011511687.1:c.920C>A	XP_011509989.1:p.Ser307Tyr
XM_011511688.1:c.920C>A	XP_011509990.1:p.Ser307Tyr
NM_001204.7:c.920C>A MANE Select	NP_001195.2:p.Ser307Tyr