Canonical Allele Identifier: CA616700829
Gene: OCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1312851733
gnomAD v2: 15-28343973-C-T
gnomAD v3: 15-28098827-C-T
gnomAD v4: 15-28098827-C-T
MyVariant Identifiers: chr15:g.28343973C>T (hg19) chr15:g.28098827C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28098827C>T , CM000677.2:g.28098827C>T GRCh38
NC_000015.9:g.28343973C>T , CM000677.1:g.28343973C>T GRCh37
NC_000015.8:g.26017568C>T NCBI36
NG_009846.1:g.5486G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.-22+397G>A MANE Select ENSP00000346659.3:n.-22+397G>A
ENST00000353809.9:c.-22+397G>A ENSP00000261276.8:n.-22+397G>A
ENST00000354638.7:c.-22+397G>A ENSP00000346659.3:n.-22+397G>A
ENST00000431101.1:c.-22+284G>A ENSP00000415431.1:n.-22+284G>A
ENST00000445578.5:c.-22+397G>A ENSP00000414425.1:n.-22+397G>A
NM_000275.2:c.-22+397G>A NP_000266.2:n.-22+397G>A
NM_001300984.1:c.-22+397G>A NP_001287913.1:n.-22+397G>A
XM_011521640.1:c.-22+397G>A XP_011519942.1:n.-22+397G>A
XM_011521640.2:c.-22+397G>A XP_011519942.1:n.-22+397G>A
NM_000275.3:c.-22+397G>A MANE Select NP_000266.2:n.-22+397G>A
NM_001300984.2:c.-22+397G>A NP_001287913.1:n.-22+397G>A
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