Canonical Allele Identifier: CA2061080
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225305
dbSNP Id: rs140683387

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467547A>C , CM000664.2:g.202467547A>C GRCh38
NC_000002.11:g.203332270A>C , CM000664.1:g.203332270A>C GRCh37
NC_000002.10:g.203040515A>C NCBI36
NG_009363.1:g.96221A>C , LRG_712:g.96221A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.276A>C MANE Select ENSP00000363708.4:p.Gln92His
ENST00000638587.1:c.207A>C ENSP00000491062.1:p.Gln69His
ENST00000374574.2:c.276A>C ENSP00000363702.2:p.Gln92His
ENST00000374580.8:c.276A>C ENSP00000363708.4:p.Gln92His
ENST00000479069.1:n.183A>C
NM_001204.6:c.276A>C , LRG_712t1:c.276A>C NP_001195.2:p.Gln92His
XM_011511687.1:c.276A>C XP_011509989.1:p.Gln92His
XM_011511688.1:c.276A>C XP_011509990.1:p.Gln92His
NM_001204.7:c.276A>C MANE Select NP_001195.2:p.Gln92His