Canonical Allele Identifier: CA91169734
Gene: SPON2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.1171044G>C
GRCh37 chr4:g.1164832G>C
Revel Score:
ENST00000290902 (MANE Select) 0.512
ENST00000431380 0.512
gnomAD v3:
4:1171044 G / C
gnomAD v4:
chr4-1171044-G-C
Joint Max Group AF 0.00001576 (AMR)
Genomes Max Group AF 0.00005276 (AMR)
ClinVar Allele:
2292920
ClinVar RCV:
RCV004148416
ClinVar Variation:
2302271
dbSNP:
563419743
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1171044G>C , CM000666.2:g.1171044G>C GRCh38
NC_000004.11:g.1164832G>C , CM000666.1:g.1164832G>C GRCh37
NC_000004.10:g.1154832G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290902.10:c.591C>G MANE Select ENSP00000290902.5:p.Phe197Leu
ENST00000290902.9:c.591C>G ENSP00000290902.5:p.Phe197Leu
ENST00000431380.5:c.591C>G ENSP00000394832.1:p.Phe197Leu
ENST00000507466.1:n.510C>G
ENST00000509697.1:n.27C>G
ENST00000617421.4:c.591C>G ENSP00000483599.1:p.Phe197Leu
NM_001128325.2:c.591C>G NP_001121797.1:p.Phe197Leu
NM_001199021.1:c.591C>G NP_001185950.1:p.Phe197Leu
NM_012445.3:c.591C>G NP_036577.1:p.Phe197Leu
NM_012445.4:c.591C>G MANE Select NP_036577.2:p.Phe197Leu
NM_001128325.3:c.591C>G NP_001121797.2:p.Phe197Leu
NM_001199021.2:c.591C>G NP_001185950.2:p.Phe197Leu
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