Canonical Allele Identifier: CA2275256892

Gene: OTOP2 USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74923028G= , CM000679.2:g.74923028G=	GRCh38
NC_000017.10:g.72919123G= , CM000679.1:g.72919123G=	GRCh37
NC_000017.9:g.70430718G=	NCBI36
NG_007882.1:g.5229C=
NG_033062.1:g.3754G=
NG_007882.2:g.5236C=
NG_033062.2:g.3754G=

Transcript Alleles

HGVS	Amino-acid Change
NM_173477.5:c.46C= (USH1G) MANE Select	NP_775748.2:p.Leu16=
ENST00000614341.5:c.46C= (USH1G) MANE Select	ENSP00000480279.1:p.Leu16=
NM_001282489.2:c.-211C= (USH1G)	NP_001269418.1:n.-211C=
NM_001282489.3:c.-211C= (USH1G)	NP_001269418.1:n.-211C=
NM_173477.4:c.46C= (USH1G)	NP_775748.2:p.Leu16=
ENST00000579243.1:c.46C= (USH1G)	ENSP00000462568.1:p.Leu16=
ENST00000580223.2:c.-237G= (OTOP2)	ENSP00000463837.2:n.-237G=
ENST00000614341.4:c.46C= (USH1G)	ENSP00000480279.1:p.Leu16=
XM_011525479.1:c.-237G= (OTOP2)	XP_011523781.1:n.-237G=
XM_011525479.2:c.-237G= (OTOP2)	XP_011523781.1:n.-237G=