Canonical Allele Identifier: CA10613660
Gene: BMPR2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.202565733T>G
GRCh37 chr2:g.203430456T>G
gnomAD v2:
2:203430456 T / G
gnomAD v3:
2:202565733 T / G
gnomAD v4:
chr2-202565733-T-G
Joint Max Group AF 0.82268384 (EAS)
Genomes Max Group AF 0.82268384 (EAS)
ClinVar RCV:
RCV000394046
ClinVar Variation:
333715
dbSNP:
1048829
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202565733T>G , CM000664.2:g.202565733T>G GRCh38
NC_000002.11:g.203430456T>G , CM000664.1:g.203430456T>G GRCh37
NC_000002.10:g.203138701T>G NCBI36
NG_009363.1:g.194407T>G , LRG_712:g.194407T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.*5787T>G MANE Select ENSP00000363708.4:n.*5787T>G
ENST00000374574.2:c.*6031T>G ENSP00000363702.2:n.*6031T>G
ENST00000374580.8:c.*5787T>G ENSP00000363708.4:n.*5787T>G
NM_001204.6:c.*5787T>G , LRG_712t1:c.*5787T>G NP_001195.2:n.*5787T>G
XM_011511687.1:c.*5787T>G XP_011509989.1:n.*5787T>G
NM_001204.7:c.*5787T>G MANE Select NP_001195.2:n.*5787T>G
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