Canonical Allele Identifier: CA6554856
Community Standard Title: NM_032130.3(FAM186B):c.506-2A>G
Gene: FAM186B HGNC NCBI
PRPF40B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49601136T>C , CM000674.2:g.49601136T>C GRCh38
NC_000012.11:g.49994919T>C , CM000674.1:g.49994919T>C GRCh37
NC_000012.10:g.48281186T>C NCBI36
NG_032901.2:g.37919T>C , LRG_625:g.37919T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032130.3:c.506-2A>G (FAM186B) MANE Select NP_115506.1:n.506-2A>G
ENST00000257894.2:c.506-2A>G (FAM186B) MANE Select ENSP00000257894.2:n.506-2A>G
NM_032130.2:c.506-2A>G (FAM186B) NP_115506.1:n.506-2A>G
NR_027450.1:n.836-2A>G (FAM186B)
NR_027450.2:n.848-2A>G (FAM186B)
ENST00000508736.1:n.1311T>C (PRPF40B)
ENST00000527253.2:n.188-3041T>C (PRPF40B)
ENST00000533372.1:c.*512-2A>G (FAM186B) ENSP00000433047.1:n.*512-2A>G
ENST00000551047.5:c.506-2A>G (FAM186B) ENSP00000448656.1:n.506-2A>G
ENST00000551063.5:c.-161-21501T>C (PRPF40B) ENSP00000449569.1:n.-161-21501T>C
XM_006719625.2:c.506-2A>G (FAM186B) XP_006719688.1:n.506-2A>G
XM_006719626.2:c.506-2A>G (FAM186B) XP_006719689.1:n.506-2A>G
XM_006719627.2:c.506-2A>G (FAM186B) XP_006719690.1:n.506-2A>G
XM_006719627.3:c.506-2A>G (FAM186B) XP_006719690.1:n.506-2A>G
XM_011538796.1:c.506-2A>G (FAM186B) XP_011537098.1:n.506-2A>G
XM_011538796.2:c.506-2A>G (FAM186B) XP_011537098.1:n.506-2A>G
XM_011538797.1:c.506-2A>G (FAM186B) XP_011537099.1:n.506-2A>G
XM_011538797.3:c.506-2A>G (FAM186B) XP_011537099.1:n.506-2A>G
XM_017020008.2:c.236-2A>G (FAM186B) XP_016875497.1:n.236-2A>G
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