Canonical Allele Identifier: CA645294015
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425774
dbSNP Id: rs1085307222

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467642dup , CM000664.2:g.202467642dup GRCh38
NC_000002.11:g.203332365dup , CM000664.1:g.203332365dup GRCh37
NC_000002.10:g.203040610dup NCBI36
NG_009363.1:g.96316dup , LRG_712:g.96316dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.371dup MANE Select ENSP00000363708.4:p.Asn124LysfsTer6
ENST00000638587.1:c.302dup ENSP00000491062.1:p.Asn101LysfsTer6
ENST00000374574.2:c.371dup ENSP00000363702.2:p.Asn124LysfsTer6
ENST00000374580.8:c.371dup ENSP00000363708.4:p.Asn124LysfsTer6
ENST00000479069.1:n.278dup
NM_001204.6:c.371dup , LRG_712t1:c.371dup NP_001195.2:p.Asn124LysfsTer6
XM_011511687.1:c.371dup XP_011509989.1:p.Asn124LysfsTer6
XM_011511688.1:c.371dup XP_011509990.1:p.Asn124LysfsTer6
NM_001204.7:c.371dup MANE Select NP_001195.2:p.Asn124LysfsTer6