Canonical Allele Identifier: CA350340771
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372691
ClinVar RCV Id: RCV001874756
dbSNP Id: rs2106008336
MyVariant Identifiers: chr2:g.203384851G>A (hg19) chr2:g.202520128G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520128G>A , CM000664.2:g.202520128G>A GRCh38
NC_000002.11:g.203384851G>A , CM000664.1:g.203384851G>A GRCh37
NC_000002.10:g.203093096G>A NCBI36
NG_009363.1:g.148802G>A , LRG_712:g.148802G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.894G>A MANE Select ENSP00000363708.4:p.Trp298Ter
ENST00000638587.1:c.825G>A ENSP00000491062.1:p.Trp275Ter
ENST00000374574.2:c.894G>A ENSP00000363702.2:p.Trp298Ter
ENST00000374580.8:c.894G>A ENSP00000363708.4:p.Trp298Ter
NM_001204.6:c.894G>A , LRG_712t1:c.894G>A NP_001195.2:p.Trp298Ter
XM_011511687.1:c.894G>A XP_011509989.1:p.Trp298Ter
XM_011511688.1:c.894G>A XP_011509990.1:p.Trp298Ter
NM_001204.7:c.894G>A MANE Select NP_001195.2:p.Trp298Ter
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