Canonical Allele Identifier: CA275423
Gene: OCA2 HGNC NCBI

Linked Data

dbSNP Id: rs797044784

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28016172_28016175delinsGACC , CM000677.2:g.28016172_28016175delinsGACC GRCh38
NC_000015.9:g.28261318_28261321delinsGACC , CM000677.1:g.28261318_28261321delinsGACC GRCh37
NC_000015.8:g.25934913_25934916delinsGACC NCBI36
NG_009846.1:g.88138_88141delinsGGTC

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.819_822delinsGGTC MANE Select ENSP00000346659.3:p.Asn273_Trp274delinsLy...
ENST00000353809.9:c.819_822delinsGGTC ENSP00000261276.8:p.Asn273_Trp274delinsLy...
ENST00000354638.7:c.819_822delinsGGTC ENSP00000346659.3:p.Asn273_Trp274delinsLy...
ENST00000445578.5:c.585_588delinsGGTC ENSP00000414425.1:p.Asn195_Trp196delinsLy...
NM_000275.2:c.819_822delinsGGTC NP_000266.2:p.Asn273_Trp274delinsLysVal
NM_001300984.1:c.819_822delinsGGTC NP_001287913.1:p.Asn273_Trp274delinsLysVa...
XM_011521639.1:c.843_846delinsGGTC XP_011519941.1:p.Asn281_Trp282delinsLysVa...
XM_011521640.1:c.819_822delinsGGTC XP_011519942.1:p.Asn273_Trp274delinsLysVa...
XM_011521641.1:c.843_846delinsGGTC XP_011519943.1:p.Asn281_Trp282delinsLysVa...
XM_011521642.1:c.843_846delinsGGTC XP_011519944.1:p.Asn281_Trp282delinsLysVa...
XM_011521643.1:c.843_846delinsGGTC XP_011519945.1:p.Asn281_Trp282delinsLysVa...
XM_011521644.1:c.843_846delinsGGTC XP_011519946.1:p.Asn281_Trp282delinsLysVa...
XM_011521645.1:c.843_846delinsGGTC XP_011519947.1:p.Asn281_Trp282delinsLysVa...
XM_011521646.1:c.843_846delinsGGTC XP_011519948.1:p.Asn281_Trp282delinsLysVa...
XM_011521647.1:c.843_846delinsGGTC XP_011519949.1:p.Asn281_Trp282delinsLysVa...
XR_931843.1:n.2204_2207delinsGGTC
XM_011521640.2:c.819_822delinsGGTC XP_011519942.1:p.Asn273_Trp274delinsLysVa...
XM_017022255.1:c.843_846delinsGGTC XP_016877744.1:p.Asn281_Trp282delinsLysVa...
XM_017022256.1:c.843_846delinsGGTC XP_016877745.1:p.Asn281_Trp282delinsLysVa...
XM_017022257.1:c.843_846delinsGGTC XP_016877746.1:p.Asn281_Trp282delinsLysVa...
XM_017022258.1:c.843_846delinsGGTC XP_016877747.1:p.Asn281_Trp282delinsLysVa...
XM_017022259.1:c.843_846delinsGGTC XP_016877748.1:p.Asn281_Trp282delinsLysVa...
XM_017022260.1:c.843_846delinsGGTC XP_016877749.1:p.Asn281_Trp282delinsLysVa...
XM_017022261.1:c.648_651delinsGGTC XP_016877750.1:p.Asn216_Trp217delinsLysVa...
XM_017022262.1:c.843_846delinsGGTC XP_016877751.1:p.Asn281_Trp282delinsLysVa...
XM_017022263.1:c.843_846delinsGGTC XP_016877752.1:p.Asn281_Trp282delinsLysVa...
XM_017022264.1:c.843_846delinsGGTC XP_016877753.1:p.Asn281_Trp282delinsLysVa...
XM_017022265.1:c.843_846delinsGGTC XP_016877754.1:p.Asn281_Trp282delinsLysVa...
XR_001751294.1:n.932_935delinsGGTC
NM_000275.3:c.819_822delinsGGTC MANE Select NP_000266.2:p.Asn273_Trp274delinsLysVal
NM_001300984.2:c.819_822delinsGGTC NP_001287913.1:p.Asn273_Trp274delinsLysVa...