Canonical Allele Identifier: CA350347105
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555683T>G , CM000664.2:g.202555683T>G GRCh38
NC_000002.11:g.203420406T>G , CM000664.1:g.203420406T>G GRCh37
NC_000002.10:g.203128651T>G NCBI36
NG_009363.1:g.184357T>G , LRG_712:g.184357T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2018T>G MANE Select ENSP00000363708.4:p.Val673Gly
ENST00000638587.1:c.1949T>G ENSP00000491062.1:n.1949T>G
ENST00000374574.2:c.1586+2795T>G ENSP00000363702.2:n.1586+2795T>G
ENST00000374580.8:c.2018T>G ENSP00000363708.4:p.Val673Gly
NM_001204.6:c.2018T>G , LRG_712t1:c.2018T>G NP_001195.2:p.Val673Gly
XM_011511687.1:c.2018T>G XP_011509989.1:p.Val673Gly
XM_011511688.1:c.1586+2795T>G XP_011509990.1:n.1586+2795T>G
NM_001204.7:c.2018T>G MANE Select NP_001195.2:p.Val673Gly