Canonical Allele Identifier: CA350340356
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383642T>C (hg19) chr2:g.202518919T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518919T>C , CM000664.2:g.202518919T>C GRCh38
NC_000002.11:g.203383642T>C , CM000664.1:g.203383642T>C GRCh37
NC_000002.10:g.203091887T>C NCBI36
NG_009363.1:g.147593T>C , LRG_712:g.147593T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.719T>C MANE Select ENSP00000363708.4:p.Phe240Ser
ENST00000638587.1:c.650T>C ENSP00000491062.1:p.Phe217Ser
ENST00000374574.2:c.719T>C ENSP00000363702.2:p.Phe240Ser
ENST00000374580.8:c.719T>C ENSP00000363708.4:p.Phe240Ser
NM_001204.6:c.719T>C , LRG_712t1:c.719T>C NP_001195.2:p.Phe240Ser
XM_011511687.1:c.719T>C XP_011509989.1:p.Phe240Ser
XM_011511688.1:c.719T>C XP_011509990.1:p.Phe240Ser
NM_001204.7:c.719T>C MANE Select NP_001195.2:p.Phe240Ser
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