Canonical Allele Identifier: CA2166468709
Gene: OCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28093603_28093623delinsCATTAATCCCAGAGAAATGAA , CM000677.2:g.28093603_28093623delinsCATTAATCCCAGAGAAATGAA GRCh38
NC_000015.9:g.28338749_28338769delinsCATTAATCCCAGAGAAATGAA , CM000677.1:g.28338749_28338769delinsCATTAATCCCAGAGAAATGAA GRCh37
NC_000015.8:g.26012344_26012364delinsCATTAATCCCAGAGAAATGAA NCBI36
NG_009846.1:g.10690_10710delinsTTCATTTCTCTGGGATTAATG

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.-22+5601_-22+5621delinsTTCATTTCTCTGGGATTAATG MANE Select ENSP00000346659.3:n.-22+5601_-22+5621deli...
ENST00000353809.9:c.-22+5601_-22+5621delinsTTCATTTCTCTGGGATTAATG ENSP00000261276.8:n.-22+5601_-22+5621deli...
ENST00000354638.7:c.-22+5601_-22+5621delinsTTCATTTCTCTGGGATTAATG ENSP00000346659.3:n.-22+5601_-22+5621deli...
ENST00000431101.1:c.-22+5488_-22+5508delinsTTCATTTCTCTGGGATTAATG ENSP00000415431.1:n.-22+5488_-22+5508deli...
ENST00000445578.5:c.-22+5601_-22+5621delinsTTCATTTCTCTGGGATTAATG ENSP00000414425.1:n.-22+5601_-22+5621deli...
NM_000275.2:c.-22+5601_-22+5621delinsTTCATTTCTCTGGGATTAATG NP_000266.2:n.-22+5601_-22+5621delinsTTCA...
NM_001300984.1:c.-22+5601_-22+5621delinsTTCATTTCTCTGGGATTAATG NP_001287913.1:n.-22+5601_-22+5621delinsT...
XM_011521640.1:c.-22+5601_-22+5621delinsTTCATTTCTCTGGGATTAATG XP_011519942.1:n.-22+5601_-22+5621delinsT...
XM_011521640.2:c.-22+5601_-22+5621delinsTTCATTTCTCTGGGATTAATG XP_011519942.1:n.-22+5601_-22+5621delinsT...
NM_000275.3:c.-22+5601_-22+5621delinsTTCATTTCTCTGGGATTAATG MANE Select NP_000266.2:n.-22+5601_-22+5621delinsTTCA...
NM_001300984.2:c.-22+5601_-22+5621delinsTTCATTTCTCTGGGATTAATG NP_001287913.1:n.-22+5601_-22+5621delinsT...