Canonical Allele Identifier: CA6142365
Gene: CABP2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.67519792C>A
GRCh37 chr11:g.67287263C>A
gnomAD v2:
11:67287263 C / A
gnomAD v3:
11:67519792 C / A
gnomAD v4:
chr11-67519792-C-A
Joint Max Group AF 0.00116667 (SAS)
Genomes Max Group AF 0.00078169 (NFE)
Exomes Max Group AF 0.0011997 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67519792C>A , CM000673.2:g.67519792C>A GRCh38
NC_000011.9:g.67287263C>A , CM000673.1:g.67287263C>A GRCh37
NC_000011.8:g.67043839C>A NCBI36
NG_032982.1:g.8637G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294288.5:c.637+1G>T MANE Select ENSP00000294288.4:n.637+1G>T
ENST00000545205.2:c.*422+1G>T ENSP00000446180.1:n.*422+1G>T
ENST00000636477.1:c.589+1G>T ENSP00000490746.1:n.589+1G>T
ENST00000294288.4:c.637+1G>T ENSP00000294288.4:n.637+1G>T
ENST00000353903.9:c.466+1G>T ENSP00000312037.4:n.466+1G>T
ENST00000545205.1:c.*422+1G>T ENSP00000446180.1:n.*422+1G>T
NM_016366.2:c.637+1G>T NP_057450.2:n.637+1G>T
XM_005274046.1:c.655+1G>T XP_005274103.1:n.655+1G>T
NM_001318496.1:c.655+1G>T NP_001305425.1:n.655+1G>T
NM_001318496.2:c.655+1G>T NP_001305425.1:n.655+1G>T
NM_016366.3:c.637+1G>T MANE Select NP_057450.2:n.637+1G>T
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