Canonical Allele Identifier: CA350347771
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203420607C>A (hg19) chr2:g.202555884C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555884C>A , CM000664.2:g.202555884C>A GRCh38
NC_000002.11:g.203420607C>A , CM000664.1:g.203420607C>A GRCh37
NC_000002.10:g.203128852C>A NCBI36
NG_009363.1:g.184558C>A , LRG_712:g.184558C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2219C>A MANE Select ENSP00000363708.4:p.Thr740Asn
ENST00000638587.1:c.2150C>A ENSP00000491062.1:n.2150C>A
ENST00000374574.2:c.1586+2996C>A ENSP00000363702.2:n.1586+2996C>A
ENST00000374580.8:c.2219C>A ENSP00000363708.4:p.Thr740Asn
NM_001204.6:c.2219C>A , LRG_712t1:c.2219C>A NP_001195.2:p.Thr740Asn
XM_011511687.1:c.2219C>A XP_011509989.1:p.Thr740Asn
XM_011511688.1:c.1586+2996C>A XP_011509990.1:n.1586+2996C>A
NM_001204.7:c.2219C>A MANE Select NP_001195.2:p.Thr740Asn
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