Canonical Allele Identifier: CA1321559559
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556036_202556038delinsATG , CM000664.2:g.202556036_202556038delinsATG GRCh38
NC_000002.11:g.203420759_203420761delinsATG , CM000664.1:g.203420759_203420761delinsATG GRCh37
NC_000002.10:g.203129004_203129006delinsATG NCBI36
NG_009363.1:g.184710_184712delinsATG , LRG_712:g.184710_184712delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2371_2373delinsATG MANE Select ENSP00000363708.4:p.Met791=
ENST00000638587.1:c.2302_2304delinsATG ENSP00000491062.1:n.2302_2304delinsATG
ENST00000374574.2:c.1586+3148_1586+3150delinsATG ENSP00000363702.2:n.1586+3148_1586+3150delinsATG
ENST00000374580.8:c.2371_2373delinsATG ENSP00000363708.4:p.Met791=
NM_001204.6:c.2371_2373delinsATG , LRG_712t1:c.2371_2373delinsATG NP_001195.2:p.Met791=
XM_011511687.1:c.2371_2373delinsATG XP_011509989.1:p.Met791=
XM_011511688.1:c.1586+3148_1586+3150delinsATG XP_011509990.1:n.1586+3148_1586+3150delinsATG
NM_001204.7:c.2371_2373delinsATG MANE Select NP_001195.2:p.Met791=