Canonical Allele Identifier: CA7438595

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27845028G>A , CM000677.2:g.27845028G>A	GRCh38
NC_000015.9:g.28090174G>A , CM000677.1:g.28090174G>A	GRCh37
NC_000015.8:g.25763769G>A	NCBI36
NG_009846.1:g.259285C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.2363C>T MANE Select	NP_000266.2:p.Ser788Leu
ENST00000354638.8:c.2363C>T MANE Select	ENSP00000346659.3:p.Ser788Leu
NM_000275.2:c.2363C>T	NP_000266.2:p.Ser788Leu
NM_001300984.1:c.2291C>T	NP_001287913.1:p.Ser764Leu
NM_001300984.2:c.2291C>T	NP_001287913.1:p.Ser764Leu
ENST00000353809.9:c.2291C>T	ENSP00000261276.8:p.Ser764Leu
ENST00000354638.7:c.2363C>T	ENSP00000346659.3:p.Ser788Leu
XM_011521639.1:c.2429C>T	XP_011519941.1:p.Ser810Leu
XM_011521640.1:c.2405C>T	XP_011519942.1:p.Ser802Leu
XM_011521640.2:c.2405C>T	XP_011519942.1:p.Ser802Leu
XM_011521641.1:c.2387C>T	XP_011519943.1:p.Ser796Leu
XM_011521642.1:c.2357C>T	XP_011519944.1:p.Ser786Leu
XM_011521643.1:c.2315C>T	XP_011519945.1:p.Ser772Leu
XM_011521644.1:c.2291C>T	XP_011519946.1:p.Ser764Leu
XM_011521645.1:c.2222C>T	XP_011519947.1:p.Ser741Leu
XM_017022255.1:c.2429C>T	XP_016877744.1:p.Ser810Leu
XM_017022256.1:c.2387C>T	XP_016877745.1:p.Ser796Leu
XM_017022257.1:c.2357C>T	XP_016877746.1:p.Ser786Leu
XM_017022258.1:c.2387C>T	XP_016877747.1:p.Ser796Leu
XM_017022259.1:c.2315C>T	XP_016877748.1:p.Ser772Leu
XM_017022260.1:c.2291C>T	XP_016877749.1:p.Ser764Leu
XM_017022261.1:c.2234C>T	XP_016877750.1:p.Ser745Leu
XM_017022262.1:c.2268+26126C>T	XP_016877751.1:n.2268+26126C>T
XM_017022263.1:c.2222C>T	XP_016877752.1:p.Ser741Leu
XM_017022264.1:c.2222C>T	XP_016877753.1:p.Ser741Leu