Canonical Allele Identifier: CA2061532
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs201930372
ExAC: 2:203420821 T / G
gnomAD v2: 2-203420821-T-G
gnomAD v3: 2-202556098-T-G
gnomAD v4: 2-202556098-T-G
MyVariant Identifiers: chr2:g.203420821T>G (hg19) chr2:g.202556098T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556098T>G , CM000664.2:g.202556098T>G GRCh38
NC_000002.11:g.203420821T>G , CM000664.1:g.203420821T>G GRCh37
NC_000002.10:g.203129066T>G NCBI36
NG_009363.1:g.184772T>G , LRG_712:g.184772T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2433T>G MANE Select ENSP00000363708.4:p.Gly811=
ENST00000638587.1:c.2364T>G ENSP00000491062.1:n.2364T>G
ENST00000374574.2:c.1586+3210T>G ENSP00000363702.2:n.1586+3210T>G
ENST00000374580.8:c.2433T>G ENSP00000363708.4:p.Gly811=
NM_001204.6:c.2433T>G , LRG_712t1:c.2433T>G NP_001195.2:p.Gly811=
XM_011511687.1:c.2433T>G XP_011509989.1:p.Gly811=
XM_011511688.1:c.1586+3210T>G XP_011509990.1:n.1586+3210T>G
NM_001204.7:c.2433T>G MANE Select NP_001195.2:p.Gly811=
Search 100 bp 5'
Search 100 bp 3'