Canonical Allele Identifier: CA645294021
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425780
ClinVar RCV Id: RCV000488672
dbSNP Id: rs1085307228

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467692A>T , CM000664.2:g.202467692A>T GRCh38
NC_000002.11:g.203332415A>T , CM000664.1:g.203332415A>T GRCh37
NC_000002.10:g.203040660A>T NCBI36
NG_009363.1:g.96366A>T , LRG_712:g.96366A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.418+3A>T MANE Select ENSP00000363708.4:n.418+3A>T
ENST00000638587.1:c.349+3A>T ENSP00000491062.1:n.349+3A>T
ENST00000374574.2:c.418+3A>T ENSP00000363702.2:n.418+3A>T
ENST00000374580.8:c.418+3A>T ENSP00000363708.4:n.418+3A>T
ENST00000479069.1:n.325+3A>T
NM_001204.6:c.418+3A>T , LRG_712t1:c.418+3A>T NP_001195.2:n.418+3A>T
XM_011511687.1:c.418+3A>T XP_011509989.1:n.418+3A>T
XM_011511688.1:c.418+3A>T XP_011509990.1:n.418+3A>T
NM_001204.7:c.418+3A>T MANE Select NP_001195.2:n.418+3A>T