Canonical Allele Identifier: CA7438712

Gene: OCA2

Linked Data

• ClinVar Variation Id: 632225
• ClinVar RCV Id: RCV000779152 ; RCV001568483
• dbSNP Id: rs768934658
• ExAC: 15:28116343 A / C
• gnomAD v2: 15-28116343-A-C
• gnomAD v3: 15-27871197-A-C
• gnomAD v4: 15-27871197-A-C
• MyVariant Identifiers: chr15:g.28116343A>C (hg19) ; chr15:g.27871197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27871197A>C , CM000677.2:g.27871197A>C	GRCh38
NC_000015.9:g.28116343A>C , CM000677.1:g.28116343A>C	GRCh37
NC_000015.8:g.25789938A>C	NCBI36
NG_009846.1:g.233116T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.2201T>G MANE Select	ENSP00000346659.3:p.Leu734Arg
ENST00000353809.9:c.2129T>G	ENSP00000261276.8:p.Leu710Arg
ENST00000354638.7:c.2201T>G	ENSP00000346659.3:p.Leu734Arg
NM_000275.2:c.2201T>G	NP_000266.2:p.Leu734Arg
NM_001300984.1:c.2129T>G	NP_001287913.1:p.Leu710Arg
XM_011521639.1:c.2225T>G	XP_011519941.1:p.Leu742Arg
XM_011521640.1:c.2201T>G	XP_011519942.1:p.Leu734Arg
XM_011521641.1:c.2225T>G	XP_011519943.1:p.Leu742Arg
XM_011521642.1:c.2153T>G	XP_011519944.1:p.Leu718Arg
XM_011521643.1:c.2153T>G	XP_011519945.1:p.Leu718Arg
XM_011521644.1:c.2087T>G	XP_011519946.1:p.Leu696Arg
XM_011521645.1:c.2104-19722T>G	XP_011519947.1:n.2104-19722T>G
XM_011521640.2:c.2201T>G	XP_011519942.1:p.Leu734Arg
XM_017022255.1:c.2225T>G	XP_016877744.1:p.Leu742Arg
XM_017022256.1:c.2225T>G	XP_016877745.1:p.Leu742Arg
XM_017022257.1:c.2153T>G	XP_016877746.1:p.Leu718Arg
XM_017022258.1:c.2225T>G	XP_016877747.1:p.Leu742Arg
XM_017022259.1:c.2153T>G	XP_016877748.1:p.Leu718Arg
XM_017022260.1:c.2087T>G	XP_016877749.1:p.Leu696Arg
XM_017022261.1:c.2030T>G	XP_016877750.1:p.Leu677Arg
XM_017022262.1:c.2225T>G	XP_016877751.1:p.Leu742Arg
XM_017022263.1:c.2104-19722T>G	XP_016877752.1:n.2104-19722T>G
XM_017022264.1:c.2104-19722T>G	XP_016877753.1:n.2104-19722T>G
NM_000275.3:c.2201T>G MANE Select	NP_000266.2:p.Leu734Arg
NM_001300984.2:c.2129T>G	NP_001287913.1:p.Leu710Arg