Canonical Allele Identifier: CA350399499
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425737
dbSNP Id: rs1085307193

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467517A>G , CM000664.2:g.202467517A>G GRCh38
NC_000002.11:g.203332240A>G , CM000664.1:g.203332240A>G GRCh37
NC_000002.10:g.203040485A>G NCBI36
NG_009363.1:g.96191A>G , LRG_712:g.96191A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.248-2A>G MANE Select ENSP00000363708.4:n.248-2A>G
ENST00000638587.1:c.179-2A>G ENSP00000491062.1:n.179-2A>G
ENST00000374574.2:c.248-2A>G ENSP00000363702.2:n.248-2A>G
ENST00000374580.8:c.248-2A>G ENSP00000363708.4:n.248-2A>G
ENST00000479069.1:n.155-2A>G
NM_001204.6:c.248-2A>G , LRG_712t1:c.248-2A>G NP_001195.2:n.248-2A>G
XM_011511687.1:c.248-2A>G XP_011509989.1:n.248-2A>G
XM_011511688.1:c.248-2A>G XP_011509990.1:n.248-2A>G
NM_001204.7:c.248-2A>G MANE Select NP_001195.2:n.248-2A>G