Canonical Allele Identifier: CA1321515018

Gene: BMPR2

Linked Data

• dbSNP Id: rs1692451489

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202472243C>T , CM000664.2:g.202472243C>T	GRCh38
NC_000002.11:g.203336966C>T , CM000664.1:g.203336966C>T	GRCh37
NC_000002.10:g.203045211C>T	NCBI36
NG_009363.1:g.100917C>T , LRG_712:g.100917C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.418+4554C>T MANE Select	ENSP00000363708.4:n.418+4554C>T
ENST00000638587.1:c.349+4554C>T	ENSP00000491062.1:n.349+4554C>T
ENST00000374574.2:c.418+4554C>T	ENSP00000363702.2:n.418+4554C>T
ENST00000374580.8:c.418+4554C>T	ENSP00000363708.4:n.418+4554C>T
ENST00000479069.1:n.326-2465C>T
NM_001204.6:c.418+4554C>T , LRG_712t1:c.418+4554C>T	NP_001195.2:n.418+4554C>T
XM_011511687.1:c.418+4554C>T	XP_011509989.1:n.418+4554C>T
XM_011511688.1:c.418+4554C>T	XP_011509990.1:n.418+4554C>T
NM_001204.7:c.418+4554C>T MANE Select	NP_001195.2:n.418+4554C>T