Canonical Allele Identifier: CA391470257

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27755472C>G , CM000677.2:g.27755472C>G	GRCh38
NC_000015.9:g.28000618C>G , CM000677.1:g.28000618C>G	GRCh37
NC_000015.8:g.25674213C>G	NCBI36
NG_009846.1:g.348841G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.2433G>C MANE Select	NP_000266.2:p.Arg811Ser
ENST00000354638.8:c.2433G>C MANE Select	ENSP00000346659.3:p.Arg811Ser
NM_000275.2:c.2433G>C	NP_000266.2:p.Arg811Ser
NM_001300984.1:c.2361G>C	NP_001287913.1:p.Arg787Ser
NM_001300984.2:c.2361G>C	NP_001287913.1:p.Arg787Ser
ENST00000353809.9:c.2361G>C	ENSP00000261276.8:p.Arg787Ser
ENST00000354638.7:c.2433G>C	ENSP00000346659.3:p.Arg811Ser
XM_011521639.1:c.2499G>C	XP_011519941.1:p.Arg833Ser
XM_011521640.1:c.2475G>C	XP_011519942.1:p.Arg825Ser
XM_011521640.2:c.2475G>C	XP_011519942.1:p.Arg825Ser
XM_011521641.1:c.2457G>C	XP_011519943.1:p.Arg819Ser
XM_011521642.1:c.2427G>C	XP_011519944.1:p.Arg809Ser
XM_011521643.1:c.2385G>C	XP_011519945.1:p.Arg795Ser
XM_011521644.1:c.2361G>C	XP_011519946.1:p.Arg787Ser
XM_011521645.1:c.2292G>C	XP_011519947.1:p.Arg764Ser
XM_017022255.1:c.2499G>C	XP_016877744.1:p.Arg833Ser
XM_017022256.1:c.2457G>C	XP_016877745.1:p.Arg819Ser
XM_017022257.1:c.2427G>C	XP_016877746.1:p.Arg809Ser
XM_017022258.1:c.2457-36144G>C	XP_016877747.1:n.2457-36144G>C
XM_017022259.1:c.2385G>C	XP_016877748.1:p.Arg795Ser
XM_017022260.1:c.2361G>C	XP_016877749.1:p.Arg787Ser
XM_017022261.1:c.2304G>C	XP_016877750.1:p.Arg768Ser
XM_017022262.1:c.2269G>C	XP_016877751.1:p.Ala757Pro
XM_017022263.1:c.2292G>C	XP_016877752.1:p.Arg764Ser
XM_017022264.1:c.2292-36144G>C	XP_016877753.1:n.2292-36144G>C