Canonical Allele Identifier: CA968029634

Gene: OCA2

Linked Data

• gnomAD v3: 15-27955165-TGGAG-T
• gnomAD v4: 15-27955165-TGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27955166_27955169del , CM000677.2:g.27955166_27955169del	GRCh38
NC_000015.9:g.28200312_28200315del , CM000677.1:g.28200312_28200315del	GRCh37
NC_000015.8:g.25873907_25873910del	NCBI36
NG_009846.1:g.149144_149147del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.1831_1834del MANE Select	ENSP00000346659.3:p.Leu611LysfsTer16
ENST00000353809.9:c.1759_1762del	ENSP00000261276.8:p.Leu587LysfsTer16
ENST00000354638.7:c.1831_1834del	ENSP00000346659.3:p.Leu611LysfsTer16
NM_000275.2:c.1831_1834del	NP_000266.2:p.Leu611LysfsTer16
NM_001300984.1:c.1759_1762del	NP_001287913.1:p.Leu587LysfsTer16
XM_011521639.1:c.1855_1858del	XP_011519941.1:p.Leu619LysfsTer16
XM_011521640.1:c.1831_1834del	XP_011519942.1:p.Leu611LysfsTer16
XM_011521641.1:c.1855_1858del	XP_011519943.1:p.Leu619LysfsTer16
XM_011521642.1:c.1783_1786del	XP_011519944.1:p.Leu595LysfsTer16
XM_011521643.1:c.1783_1786del	XP_011519945.1:p.Leu595LysfsTer16
XM_011521644.1:c.1717_1720del	XP_011519946.1:p.Leu573LysfsTer16
XM_011521645.1:c.1855_1858del	XP_011519947.1:p.Leu619LysfsTer16
XM_011521646.1:c.1855_1858del	XP_011519948.1:p.Leu619LysfsTer16
XM_011521647.1:c.1855_1858del	XP_011519949.1:p.Leu619LysfsTer?
XM_011521640.2:c.1831_1834del	XP_011519942.1:p.Leu611LysfsTer16
XM_017022255.1:c.1855_1858del	XP_016877744.1:p.Leu619LysfsTer16
XM_017022256.1:c.1855_1858del	XP_016877745.1:p.Leu619LysfsTer16
XM_017022257.1:c.1783_1786del	XP_016877746.1:p.Leu595LysfsTer16
XM_017022258.1:c.1855_1858del	XP_016877747.1:p.Leu619LysfsTer16
XM_017022259.1:c.1783_1786del	XP_016877748.1:p.Leu595LysfsTer16
XM_017022260.1:c.1717_1720del	XP_016877749.1:p.Leu573LysfsTer16
XM_017022261.1:c.1660_1663del	XP_016877750.1:p.Leu554LysfsTer16
XM_017022262.1:c.1855_1858del	XP_016877751.1:p.Leu619LysfsTer16
XM_017022263.1:c.1855_1858del	XP_016877752.1:p.Leu619LysfsTer16
XM_017022264.1:c.1855_1858del	XP_016877753.1:p.Leu619LysfsTer16
XM_017022265.1:c.1855_1858del	XP_016877754.1:p.Leu619LysfsTer16
NM_000275.3:c.1831_1834del MANE Select	NP_000266.2:p.Leu611LysfsTer16
NM_001300984.2:c.1759_1762del	NP_001287913.1:p.Leu587LysfsTer16