Canonical Allele Identifier: CA10588918

Gene: USH2A USH2A-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216078145A>T , CM000663.2:g.216078145A>T	GRCh38
NC_000001.10:g.216251487A>T , CM000663.1:g.216251487A>T	GRCh37
NC_000001.9:g.214318110A>T	NCBI36
NG_009497.1:g.350252T>A
NG_009497.2:g.350304T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.4:c.5516T>A (USH2A) MANE Select	NP_996816.3:p.Val1839Glu
ENST00000307340.8:c.5516T>A (USH2A) MANE Select	ENSP00000305941.3:p.Val1839Glu
NM_206933.2:c.5516T>A (USH2A)	NP_996816.2:p.Val1839Glu
NM_206933.3:c.5516T>A (USH2A)	NP_996816.2:p.Val1839Glu
NR_125992.1:n.137-928A>T (USH2A-AS2)
NR_125993.1:n.136+5545A>T (USH2A-AS2)
ENST00000307340.7:c.5516T>A (USH2A)	ENSP00000305941.3:p.Val1839Glu
ENST00000674083.1:c.5516T>A (USH2A)	ENSP00000501296.1:p.Val1839Glu