Canonical Allele Identifier: CA350396748
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377536T>A , CM000664.2:g.202377536T>A GRCh38
NC_000002.11:g.203242259T>A , CM000664.1:g.203242259T>A GRCh37
NC_000002.10:g.202950504T>A NCBI36
NG_009363.1:g.6210T>A , LRG_712:g.6210T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.62T>A MANE Select ENSP00000363708.4:p.Val21Asp
ENST00000374574.2:c.62T>A ENSP00000363702.2:p.Val21Asp
ENST00000374580.8:c.62T>A ENSP00000363708.4:p.Val21Asp
NM_001204.6:c.62T>A , LRG_712t1:c.62T>A NP_001195.2:p.Val21Asp
XM_011511687.1:c.62T>A XP_011509989.1:p.Val21Asp
XM_011511688.1:c.62T>A XP_011509990.1:p.Val21Asp
NM_001204.7:c.62T>A MANE Select NP_001195.2:p.Val21Asp