Canonical Allele Identifier: CA2061578
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2912633
ClinVar RCV Id: RCV003764380
dbSNP Id: rs745824820
ExAC: 2:203421119 T / G
gnomAD v2: 2-203421119-T-G
gnomAD v3: 2-202556396-T-G
gnomAD v4: 2-202556396-T-G
MyVariant Identifiers: chr2:g.203421119T>G (hg19) chr2:g.202556396T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556396T>G , CM000664.2:g.202556396T>G GRCh38
NC_000002.11:g.203421119T>G , CM000664.1:g.203421119T>G GRCh37
NC_000002.10:g.203129364T>G NCBI36
NG_009363.1:g.185070T>G , LRG_712:g.185070T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2731T>G MANE Select ENSP00000363708.4:p.Ser911Ala
ENST00000638587.1:c.2662T>G ENSP00000491062.1:n.2662T>G
ENST00000374574.2:c.1587-3300T>G ENSP00000363702.2:n.1587-3300T>G
ENST00000374580.8:c.2731T>G ENSP00000363708.4:p.Ser911Ala
NM_001204.6:c.2731T>G , LRG_712t1:c.2731T>G NP_001195.2:p.Ser911Ala
XM_011511687.1:c.2731T>G XP_011509989.1:p.Ser911Ala
XM_011511688.1:c.1587-3300T>G XP_011509990.1:n.1587-3300T>G
NM_001204.7:c.2731T>G MANE Select NP_001195.2:p.Ser911Ala
Search 100 bp 5'
Search 100 bp 3'