Canonical Allele Identifier: CA350340366
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518923C>G , CM000664.2:g.202518923C>G GRCh38
NC_000002.11:g.203383646C>G , CM000664.1:g.203383646C>G GRCh37
NC_000002.10:g.203091891C>G NCBI36
NG_009363.1:g.147597C>G , LRG_712:g.147597C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.723C>G MANE Select ENSP00000363708.4:p.Ile241Met
ENST00000638587.1:c.654C>G ENSP00000491062.1:p.Ile218Met
ENST00000374574.2:c.723C>G ENSP00000363702.2:p.Ile241Met
ENST00000374580.8:c.723C>G ENSP00000363708.4:p.Ile241Met
NM_001204.6:c.723C>G , LRG_712t1:c.723C>G NP_001195.2:p.Ile241Met
XM_011511687.1:c.723C>G XP_011509989.1:p.Ile241Met
XM_011511688.1:c.723C>G XP_011509990.1:p.Ile241Met
NM_001204.7:c.723C>G MANE Select NP_001195.2:p.Ile241Met