Canonical Allele Identifier: CA1395495

Gene: USH2A USH2A-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216083488C>T , CM000663.2:g.216083488C>T	GRCh38
NC_000001.10:g.216256830C>T , CM000663.1:g.216256830C>T	GRCh37
NC_000001.9:g.214323453C>T	NCBI36
NG_009497.1:g.344909G>A
NG_009497.2:g.344961G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.4:c.5266G>A (USH2A) MANE Select	NP_996816.3:p.Val1756Ile
ENST00000307340.8:c.5266G>A (USH2A) MANE Select	ENSP00000305941.3:p.Val1756Ile
NM_206933.2:c.5266G>A (USH2A)	NP_996816.2:p.Val1756Ile
NM_206933.3:c.5266G>A (USH2A)	NP_996816.2:p.Val1756Ile
NR_125992.1:n.266-3234C>T (USH2A-AS2)
NR_125993.1:n.137-3234C>T (USH2A-AS2)
ENST00000307340.7:c.5266G>A (USH2A)	ENSP00000305941.3:p.Val1756Ile
ENST00000463147.1:n.510G>A (USH2A)
ENST00000481786.1:n.508G>A (USH2A)
ENST00000674083.1:c.5266G>A (USH2A)	ENSP00000501296.1:p.Val1756Ile