Canonical Allele Identifier: CA1395555

Gene: USH2A USH2A-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216084879T>C , CM000663.2:g.216084879T>C	GRCh38
NC_000001.10:g.216258221T>C , CM000663.1:g.216258221T>C	GRCh37
NC_000001.9:g.214324844T>C	NCBI36
NG_009497.1:g.343518A>G
NG_009497.2:g.343570A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.4:c.4988-2A>G (USH2A) MANE Select	NP_996816.3:n.4988-2A>G
ENST00000307340.8:c.4988-2A>G (USH2A) MANE Select	ENSP00000305941.3:n.4988-2A>G
NM_206933.2:c.4988-2A>G (USH2A)	NP_996816.2:n.4988-2A>G
NM_206933.3:c.4988-2A>G (USH2A)	NP_996816.2:n.4988-2A>G
NR_125992.1:n.266-1843T>C (USH2A-AS2)
NR_125993.1:n.137-1843T>C (USH2A-AS2)
ENST00000307340.7:c.4988-2A>G (USH2A)	ENSP00000305941.3:n.4988-2A>G
ENST00000463147.1:n.230A>G (USH2A)
ENST00000481786.1:n.230-2A>G (USH2A)
ENST00000674083.1:c.4988-2A>G (USH2A)	ENSP00000501296.1:n.4988-2A>G