Canonical Allele Identifier: CA2061285
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1309924
dbSNP Id: rs781018234

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530913C>G , CM000664.2:g.202530913C>G GRCh38
NC_000002.11:g.203395636C>G , CM000664.1:g.203395636C>G GRCh37
NC_000002.10:g.203103881C>G NCBI36
NG_009363.1:g.159587C>G , LRG_712:g.159587C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1087C>G MANE Select ENSP00000363708.4:p.Leu363Val
ENST00000638587.1:c.1018C>G ENSP00000491062.1:p.Leu340Val
ENST00000374574.2:c.1087C>G ENSP00000363702.2:p.Leu363Val
ENST00000374580.8:c.1087C>G ENSP00000363708.4:p.Leu363Val
NM_001204.6:c.1087C>G , LRG_712t1:c.1087C>G NP_001195.2:p.Leu363Val
XM_011511687.1:c.1087C>G XP_011509989.1:p.Leu363Val
XM_011511688.1:c.1087C>G XP_011509990.1:p.Leu363Val
NM_001204.7:c.1087C>G MANE Select NP_001195.2:p.Leu363Val