Canonical Allele Identifier: CA350396682
Gene: BMPR2 HGNC NCBI

Linked Data

COSMIC: COSM4090291
MyVariant Identifiers: chr2:g.203242243T>C (hg19) chr2:g.202377520T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377520T>C , CM000664.2:g.202377520T>C GRCh38
NC_000002.11:g.203242243T>C , CM000664.1:g.203242243T>C GRCh37
NC_000002.10:g.202950488T>C NCBI36
NG_009363.1:g.6194T>C , LRG_712:g.6194T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.46T>C MANE Select ENSP00000363708.4:p.Trp16Arg
ENST00000374574.2:c.46T>C ENSP00000363702.2:p.Trp16Arg
ENST00000374580.8:c.46T>C ENSP00000363708.4:p.Trp16Arg
NM_001204.6:c.46T>C , LRG_712t1:c.46T>C NP_001195.2:p.Trp16Arg
XM_011511687.1:c.46T>C XP_011509989.1:p.Trp16Arg
XM_011511688.1:c.46T>C XP_011509990.1:p.Trp16Arg
NM_001204.7:c.46T>C MANE Select NP_001195.2:p.Trp16Arg
Search 100 bp 5'
Search 100 bp 3'