Canonical Allele Identifier: CA763418190

Gene: BMPR2

Linked Data

• dbSNP Id: rs1334852292
• MyVariant Identifiers: chr2:g.203241196C>T (hg19) ; chr2:g.202376473C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202376473C>T , CM000664.2:g.202376473C>T	GRCh38
NC_000002.11:g.203241196C>T , CM000664.1:g.203241196C>T	GRCh37
NC_000002.10:g.202949441C>T	NCBI36
NG_009363.1:g.5147C>T , LRG_712:g.5147C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.-1002C>T MANE Select	ENSP00000363708.4:n.-1002C>T
NM_001204.6:c.-1002C>T , LRG_712t1:c.-1002C>T	NP_001195.2:n.-1002C>T
XM_011511687.1:c.-1002C>T	XP_011509989.1:n.-1002C>T
XM_011511688.1:c.-1002C>T	XP_011509990.1:n.-1002C>T
NM_001204.7:c.-1002C>T MANE Select	NP_001195.2:n.-1002C>T