Canonical Allele Identifier: CA344859302

Gene: USH2A USH2A-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216084847A>G , CM000663.2:g.216084847A>G	GRCh38
NC_000001.10:g.216258189A>G , CM000663.1:g.216258189A>G	GRCh37
NC_000001.9:g.214324812A>G	NCBI36
NG_009497.1:g.343550T>C
NG_009497.2:g.343602T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.4:c.5018T>C (USH2A) MANE Select	NP_996816.3:p.Leu1673Pro
ENST00000307340.8:c.5018T>C (USH2A) MANE Select	ENSP00000305941.3:p.Leu1673Pro
NM_206933.2:c.5018T>C (USH2A)	NP_996816.2:p.Leu1673Pro
NM_206933.3:c.5018T>C (USH2A)	NP_996816.2:p.Leu1673Pro
NR_125992.1:n.266-1875A>G (USH2A-AS2)
NR_125993.1:n.137-1875A>G (USH2A-AS2)
ENST00000307340.7:c.5018T>C (USH2A)	ENSP00000305941.3:p.Leu1673Pro
ENST00000463147.1:n.262T>C (USH2A)
ENST00000481786.1:n.260T>C (USH2A)
ENST00000674083.1:c.5018T>C (USH2A)	ENSP00000501296.1:p.Leu1673Pro