Canonical Allele Identifier: CA11266931
Gene: FARP2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.241443449C>T
GRCh37 chr2:g.242382864C>T
gnomAD v2:
2:242382864 C / T
gnomAD v3:
2:241443449 C / T
gnomAD v4:
chr2-241443449-C-T
Joint Max Group AF 0.14737296 (NFE)
Genomes Max Group AF 0.14756612 (NFE)
Exomes Max Group AF 0.04073051 (NFE)
dbSNP:
3771570
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241443449C>T , CM000664.2:g.241443449C>T GRCh38
NC_000002.11:g.242382864C>T , CM000664.1:g.242382864C>T GRCh37
NC_000002.10:g.242031537C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264042.8:c.1411+1893C>T MANE Select ENSP00000264042.3:n.1411+1893C>T
ENST00000264042.7:c.1411+1893C>T ENSP00000264042.3:n.1411+1893C>T
ENST00000373287.8:c.1411+1893C>T ENSP00000362384.4:n.1411+1893C>T
ENST00000413432.2:c.2365C>T ENSP00000412772.2:n.2365C>T
ENST00000627550.2:c.1411+1893C>T ENSP00000486597.1:n.1411+1893C>T
NM_001282983.1:c.1411+1893C>T NP_001269912.1:n.1411+1893C>T
NM_001282984.1:c.1411+1893C>T NP_001269913.1:n.1411+1893C>T
NM_014808.3:c.1411+1893C>T NP_055623.1:n.1411+1893C>T
XM_005247050.3:c.1411+1893C>T XP_005247107.1:n.1411+1893C>T
XM_011512233.1:c.1411+1893C>T XP_011510535.1:n.1411+1893C>T
XM_011512234.1:c.1411+1893C>T XP_011510536.1:n.1411+1893C>T
XM_011512235.1:c.1264+1893C>T XP_011510537.1:n.1264+1893C>T
XM_011512236.1:c.1153+1893C>T XP_011510538.1:n.1153+1893C>T
XM_011512237.1:c.1153+1893C>T XP_011510539.1:n.1153+1893C>T
XM_017005417.1:c.1264+1893C>T XP_016860906.1:n.1264+1893C>T
XM_017005419.2:c.1411+1893C>T XP_016860908.1:n.1411+1893C>T
XM_017005420.1:c.1411+1893C>T XP_016860909.1:n.1411+1893C>T
XM_024453259.1:c.1411+1893C>T XP_024309027.1:n.1411+1893C>T
NM_014808.4:c.1411+1893C>T MANE Select NP_055623.1:n.1411+1893C>T
NM_001282983.2:c.1411+1893C>T NP_001269912.1:n.1411+1893C>T
NM_001282984.2:c.1411+1893C>T NP_001269913.1:n.1411+1893C>T
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