Canonical Allele Identifier: CA350340438

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203383678T>G (hg19) ; chr2:g.202518955T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518955T>G , CM000664.2:g.202518955T>G	GRCh38
NC_000002.11:g.203383678T>G , CM000664.1:g.203383678T>G	GRCh37
NC_000002.10:g.203091923T>G	NCBI36
NG_009363.1:g.147629T>G , LRG_712:g.147629T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.755T>G MANE Select	ENSP00000363708.4:p.Met252Arg
ENST00000638587.1:c.686T>G	ENSP00000491062.1:p.Met229Arg
ENST00000374574.2:c.755T>G	ENSP00000363702.2:p.Met252Arg
ENST00000374580.8:c.755T>G	ENSP00000363708.4:p.Met252Arg
NM_001204.6:c.755T>G , LRG_712t1:c.755T>G	NP_001195.2:p.Met252Arg
XM_011511687.1:c.755T>G	XP_011509989.1:p.Met252Arg
XM_011511688.1:c.755T>G	XP_011509990.1:p.Met252Arg
NM_001204.7:c.755T>G MANE Select	NP_001195.2:p.Met252Arg