Canonical Allele Identifier: CA430905390
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v4: 2-202556521-C-T
MyVariant Identifiers: chr2:g.203421244C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556521C>T , CM000664.2:g.202556521C>T GRCh38
NC_000002.11:g.203421244C>T , CM000664.1:g.203421244C>T GRCh37
NC_000002.10:g.203129489C>T NCBI36
NG_009363.1:g.185195C>T , LRG_712:g.185195C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2856C>T MANE Select ENSP00000363708.4:p.Ser952=
ENST00000638587.1:c.2787C>T ENSP00000491062.1:n.2787C>T
ENST00000374574.2:c.1587-3175C>T ENSP00000363702.2:n.1587-3175C>T
ENST00000374580.8:c.2856C>T ENSP00000363708.4:p.Ser952=
NM_001204.6:c.2856C>T , LRG_712t1:c.2856C>T NP_001195.2:p.Ser952=
XM_011511687.1:c.2856C>T XP_011509989.1:p.Ser952=
XM_011511688.1:c.1587-3175C>T XP_011509990.1:n.1587-3175C>T
NM_001204.7:c.2856C>T MANE Select NP_001195.2:p.Ser952=
Search 100 bp 5'
Search 100 bp 3'