Canonical Allele Identifier: CA645293828
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425902
ClinVar RCV Id: RCV000488484
dbSNP Id: rs1085307320

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532703_202532706delinsGA , CM000664.2:g.202532703_202532706delinsGA GRCh38
NC_000002.11:g.203397426_203397429delinsGA , CM000664.1:g.203397426_203397429delinsGA GRCh37
NC_000002.10:g.203105671_203105674delinsGA NCBI36
NG_009363.1:g.161377_161380delinsGA , LRG_712:g.161377_161380delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1247_1250delinsGA MANE Select ENSP00000363708.4:p.Ile416ArgfsTer31
ENST00000638587.1:c.1178_1181delinsGA ENSP00000491062.1:p.Ile393ArgfsTer31
ENST00000374574.2:c.1247_1250delinsGA ENSP00000363702.2:p.Ile416ArgfsTer31
ENST00000374580.8:c.1247_1250delinsGA ENSP00000363708.4:p.Ile416ArgfsTer31
NM_001204.6:c.1247_1250delinsGA , LRG_712t1:c.1247_1250delinsGA NP_001195.2:p.Ile416ArgfsTer31
XM_011511687.1:c.1247_1250delinsGA XP_011509989.1:p.Ile416ArgfsTer31
XM_011511688.1:c.1247_1250delinsGA XP_011509990.1:p.Ile416ArgfsTer31
NM_001204.7:c.1247_1250delinsGA MANE Select NP_001195.2:p.Ile416ArgfsTer31