Canonical Allele Identifier: CA350338798
Gene: BMPR2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.202514914A>G
GRCh37 chr2:g.203379637A>G
Revel Score:
ENST00000374580 (MANE Select) 0.457
ENST00000374574 0.457
ClinVar Allele:
414180
ClinVar RCV:
RCV000488480
ClinVar Variation:
425805
dbSNP:
1085307244
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202514914A>G , CM000664.2:g.202514914A>G GRCh38
NC_000002.11:g.203379637A>G , CM000664.1:g.203379637A>G GRCh37
NC_000002.10:g.203087882A>G NCBI36
NG_009363.1:g.143588A>G , LRG_712:g.143588A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.556A>G MANE Select ENSP00000363708.4:p.Met186Val
ENST00000638587.1:c.487A>G ENSP00000491062.1:p.Met163Val
ENST00000374574.2:c.556A>G ENSP00000363702.2:p.Met186Val
ENST00000374580.8:c.556A>G ENSP00000363708.4:p.Met186Val
NM_001204.6:c.556A>G , LRG_712t1:c.556A>G NP_001195.2:p.Met186Val
XM_011511687.1:c.556A>G XP_011509989.1:p.Met186Val
XM_011511688.1:c.556A>G XP_011509990.1:p.Met186Val
NM_001204.7:c.556A>G MANE Select NP_001195.2:p.Met186Val
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