Canonical Allele Identifier: CA6142610
Gene: CABP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 513290
ClinVar RCV Id: RCV000602654
dbSNP Id: rs766307112
ExAC: 11:67290828 C / T
gnomAD v2: 11-67290828-C-T
gnomAD v3: 11-67523357-C-T
gnomAD v4: 11-67523357-C-T
MyVariant Identifiers: chr11:g.67290828C>T (hg19) chr11:g.67523357C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67523357C>T , CM000673.2:g.67523357C>T GRCh38
NC_000011.9:g.67290828C>T , CM000673.1:g.67290828C>T GRCh37
NC_000011.8:g.67047404C>T NCBI36
NG_032982.1:g.5072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294288.5:c.-31G>A MANE Select ENSP00000294288.4:n.-31G>A
ENST00000545205.2:c.-31G>A ENSP00000446180.1:n.-31G>A
ENST00000636477.1:c.165+855G>A ENSP00000490746.1:n.165+855G>A
ENST00000294288.4:c.-31G>A ENSP00000294288.4:n.-31G>A
ENST00000353903.9:c.-31G>A ENSP00000312037.4:n.-31G>A
ENST00000545205.1:c.-31G>A ENSP00000446180.1:n.-31G>A
NM_016366.2:c.-31G>A NP_057450.2:n.-31G>A
XM_005274046.1:c.-17G>A XP_005274103.1:n.-17G>A
NM_001318496.1:c.-17G>A NP_001305425.1:n.-17G>A
NM_001318496.2:c.-17G>A NP_001305425.1:n.-17G>A
NM_016366.3:c.-31G>A MANE Select NP_057450.2:n.-31G>A
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