Canonical Allele Identifier: CA5321361
Gene: FCN2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.134887245G>T
GRCh37 chr9:g.137779091G>T
Revel Score:
ENST00000350339 0.474
ENST00000291744 (MANE Select) 0.474
gnomAD v2:
9:137779091 G / T
gnomAD v3:
9:134887245 G / T
gnomAD v4:
chr9-134887245-G-T
Joint Max Group AF 0.19341834 (AFR)
Genomes Max Group AF 0.19010301 (AFR)
Exomes Max Group AF 0.19509152 (AFR)
ClinVar RCV:
RCV003981931
ClinVar Variation:
3059902
dbSNP:
7851696
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134887245G>T , CM000671.2:g.134887245G>T GRCh38
NC_000009.11:g.137779091G>T , CM000671.1:g.137779091G>T GRCh37
NC_000009.10:g.136918912G>T NCBI36
NG_011649.1:g.11434G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291744.11:c.772G>T MANE Select ENSP00000291744.6:p.Ala258Ser
ENST00000291744.10:c.772G>T ENSP00000291744.6:p.Ala258Ser
ENST00000350339.3:c.658G>T ENSP00000291741.5:p.Ala220Ser
NM_004108.2:c.772G>T NP_004099.2:p.Ala258Ser
NM_015837.2:c.658G>T NP_056652.1:p.Ala220Ser
XM_006717015.2:c.625G>T XP_006717078.1:p.Ala209Ser
XM_011518392.1:c.739G>T XP_011516694.1:p.Ala247Ser
XM_006717015.4:c.625G>T XP_006717078.1:p.Ala209Ser
XM_011518392.3:c.739G>T XP_011516694.1:p.Ala247Ser
NM_004108.3:c.772G>T MANE Select NP_004099.2:p.Ala258Ser
NM_015837.3:c.658G>T NP_056652.1:p.Ala220Ser
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