Canonical Allele Identifier: CA1321537811
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1687684247
gnomAD v4: 2-202514835-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202514835G>T , CM000664.2:g.202514835G>T GRCh38
NC_000002.11:g.203379558G>T , CM000664.1:g.203379558G>T GRCh37
NC_000002.10:g.203087803G>T NCBI36
NG_009363.1:g.143509G>T , LRG_712:g.143509G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.530-53G>T MANE Select ENSP00000363708.4:n.530-53G>T
ENST00000638587.1:c.461-53G>T ENSP00000491062.1:n.461-53G>T
ENST00000374574.2:c.530-53G>T ENSP00000363702.2:n.530-53G>T
ENST00000374580.8:c.530-53G>T ENSP00000363708.4:n.530-53G>T
NM_001204.6:c.530-53G>T , LRG_712t1:c.530-53G>T NP_001195.2:n.530-53G>T
XM_011511687.1:c.530-53G>T XP_011509989.1:n.530-53G>T
XM_011511688.1:c.530-53G>T XP_011509990.1:n.530-53G>T
NM_001204.7:c.530-53G>T MANE Select NP_001195.2:n.530-53G>T
Search 100 bp 5'
Search 100 bp 3'