Canonical Allele Identifier: CA350396749
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.62T>G MANE Select ENSP00000363708.4:p.Val21Gly
ENST00000374574.2:c.62T>G ENSP00000363702.2:p.Val21Gly
ENST00000374580.8:c.62T>G ENSP00000363708.4:p.Val21Gly
NM_001204.6:c.62T>G , LRG_712t1:c.62T>G NP_001195.2:p.Val21Gly
XM_011511687.1:c.62T>G XP_011509989.1:p.Val21Gly
XM_011511688.1:c.62T>G XP_011509990.1:p.Val21Gly
NM_001204.7:c.62T>G MANE Select NP_001195.2:p.Val21Gly