Canonical Allele Identifier: CA16502233
Gene: OCA2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.28099092A>G
GRCh37 chr15:g.28344238A>G
gnomAD v2:
15:28344238 A / G
gnomAD v3:
15:28099092 A / G
gnomAD v4:
chr15-28099092-A-G
Joint Max Group AF 0.63650265 (EAS)
Genomes Max Group AF 0.63771711 (EAS)
Exomes Max Group AF 0.55881869 (EAS)
dbSNP:
7495174
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28099092A>G , CM000677.2:g.28099092A>G GRCh38
NC_000015.9:g.28344238A>G , CM000677.1:g.28344238A>G GRCh37
NC_000015.8:g.26017833A>G NCBI36
NG_009846.1:g.5221T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.-22+132T>C MANE Select ENSP00000346659.3:n.-22+132T>C
ENST00000353809.9:c.-22+132T>C ENSP00000261276.8:n.-22+132T>C
ENST00000354638.7:c.-22+132T>C ENSP00000346659.3:n.-22+132T>C
ENST00000431101.1:c.-22+19T>C ENSP00000415431.1:n.-22+19T>C
ENST00000445578.5:c.-22+132T>C ENSP00000414425.1:n.-22+132T>C
NM_000275.2:c.-22+132T>C NP_000266.2:n.-22+132T>C
NM_001300984.1:c.-22+132T>C NP_001287913.1:n.-22+132T>C
XM_011521640.1:c.-22+132T>C XP_011519942.1:n.-22+132T>C
XM_011521640.2:c.-22+132T>C XP_011519942.1:n.-22+132T>C
NM_000275.3:c.-22+132T>C MANE Select NP_000266.2:n.-22+132T>C
NM_001300984.2:c.-22+132T>C NP_001287913.1:n.-22+132T>C
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