Canonical Allele Identifier: CA16621749
Gene: FAM161A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.61839792A>T
GRCh37 chr2:g.62066927A>T
gnomAD v2:
2:62066927 A / T
gnomAD v3:
2:61839792 A / T
gnomAD v4:
chr2-61839792-A-T
Joint Max Group AF 7.9e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61839792A>T , CM000664.2:g.61839792A>T GRCh38
NC_000002.11:g.62066927A>T , CM000664.1:g.62066927A>T GRCh37
NC_000002.10:g.61920431A>T NCBI36
NG_028125.1:g.19352T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000404929.6:c.1212T>A MANE Select ENSP00000385158.1:p.Cys404Ter
ENST00000307507.3:c.*1222T>A ENSP00000303170.3:n.*1222T>A
ENST00000404929.5:c.1212T>A ENSP00000385158.1:p.Cys404Ter
ENST00000405894.3:c.1212T>A ENSP00000385893.3:p.Cys404Ter
ENST00000418113.5:c.1199T>A
ENST00000456262.5:c.*727T>A ENSP00000396105.1:n.*727T>A
NM_001201543.1:c.1212T>A NP_001188472.1:p.Cys404Ter
NM_032180.2:c.1212T>A NP_115556.2:p.Cys404Ter
NR_037710.1:n.1258T>A
XR_939724.1:n.2573T>A
XM_017005072.1:c.885T>A XP_016860561.1:p.Cys295Ter
XM_017005073.1:c.642T>A XP_016860562.1:p.Cys214Ter
XM_017005074.1:c.642T>A XP_016860563.1:p.Cys214Ter
XR_001738972.2:n.1213T>A
XR_001738973.2:n.1213T>A
XR_001738974.2:n.1213T>A
XR_001738975.2:n.1213T>A
XR_001738976.1:n.1241T>A
XR_001738977.1:n.1241T>A
NM_001201543.2:c.1212T>A MANE Select NP_001188472.1:p.Cys404Ter
NM_032180.3:c.1212T>A NP_115556.2:p.Cys404Ter
NR_037710.2:n.1175T>A
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