Canonical Allele Identifier: CA2753905488
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513842_202513843insAACACACCCAACACA , CM000664.2:g.202513842_202513843insAACACACCCAACACA GRCh38
NC_000002.11:g.203378565_203378566insAACACACCCAACACA , CM000664.1:g.203378565_203378566insAACACACCCAACACA GRCh37
NC_000002.10:g.203086810_203086811insAACACACCCAACACA NCBI36
NG_009363.1:g.142516_142517insAACACACCCAACACA , LRG_712:g.142516_142517insAACACACCCAACACA

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.529+13_529+14insAACACACCCAACACA MANE Select ENSP00000363708.4:n.529+13_529+14insAACAC...
ENST00000638587.1:c.460+13_460+14insAACACACCCAACACA ENSP00000491062.1:n.460+13_460+14insAACAC...
ENST00000374574.2:c.529+13_529+14insAACACACCCAACACA ENSP00000363702.2:n.529+13_529+14insAACAC...
ENST00000374580.8:c.529+13_529+14insAACACACCCAACACA ENSP00000363708.4:n.529+13_529+14insAACAC...
NM_001204.6:c.529+13_529+14insAACACACCCAACACA , LRG_712t1:c.529+13_529+14insAACACACCCAACACA NP_001195.2:n.529+13_529+14insAACACACCCAA...
XM_011511687.1:c.529+13_529+14insAACACACCCAACACA XP_011509989.1:n.529+13_529+14insAACACACC...
XM_011511688.1:c.529+13_529+14insAACACACCCAACACA XP_011509990.1:n.529+13_529+14insAACACACC...
NM_001204.7:c.529+13_529+14insAACACACCCAACACA MANE Select NP_001195.2:n.529+13_529+14insAACACACCCAA...