Canonical Allele Identifier: CA1321510550
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467579C= , CM000664.2:g.202467579C= GRCh38
NC_000002.11:g.203332302C= , CM000664.1:g.203332302C= GRCh37
NC_000002.10:g.203040547C= NCBI36
NG_009363.1:g.96253C= , LRG_712:g.96253C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.308C= MANE Select ENSP00000363708.4:p.Thr103=
ENST00000638587.1:c.239C= ENSP00000491062.1:p.Thr80=
ENST00000374574.2:c.308C= ENSP00000363702.2:p.Thr103=
ENST00000374580.8:c.308C= ENSP00000363708.4:p.Thr103=
ENST00000479069.1:n.215C=
NM_001204.6:c.308C= , LRG_712t1:c.308C= NP_001195.2:p.Thr103=
XM_011511687.1:c.308C= XP_011509989.1:p.Thr103=
XM_011511688.1:c.308C= XP_011509990.1:p.Thr103=
NM_001204.7:c.308C= MANE Select NP_001195.2:p.Thr103=