Canonical Allele Identifier: CA2627388909
Gene: OCA2 HGNC NCBI

Linked Data

gnomAD v4: 15-28099007-A-AG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28099012dup , CM000677.2:g.28099012dup GRCh38
NC_000015.9:g.28344158dup , CM000677.1:g.28344158dup GRCh37
NC_000015.8:g.26017753dup NCBI36
NG_009846.1:g.5305dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.-22+216dup MANE Select ENSP00000346659.3:n.-22+216dup
ENST00000353809.9:c.-22+216dup ENSP00000261276.8:n.-22+216dup
ENST00000354638.7:c.-22+216dup ENSP00000346659.3:n.-22+216dup
ENST00000431101.1:c.-22+103dup ENSP00000415431.1:n.-22+103dup
ENST00000445578.5:c.-22+216dup ENSP00000414425.1:n.-22+216dup
NM_000275.2:c.-22+216dup NP_000266.2:n.-22+216dup
NM_001300984.1:c.-22+216dup NP_001287913.1:n.-22+216dup
XM_011521640.1:c.-22+216dup XP_011519942.1:n.-22+216dup
XM_011521640.2:c.-22+216dup XP_011519942.1:n.-22+216dup
NM_000275.3:c.-22+216dup MANE Select NP_000266.2:n.-22+216dup
NM_001300984.2:c.-22+216dup NP_001287913.1:n.-22+216dup
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