Canonical Allele Identifier: CA179559
Community Standard Title: NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
Gene: USH2A HGNC NCBI
USH2A-AS2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216084826T>C , CM000663.2:g.216084826T>C GRCh38
NC_000001.10:g.216258168T>C , CM000663.1:g.216258168T>C GRCh37
NC_000001.9:g.214324791T>C NCBI36
NG_009497.1:g.343571A>G
NG_009497.2:g.343623A>G

Transcript Alleles

HGVS Amino-acid Change
NM_206933.4:c.5039A>G (USH2A) MANE Select NP_996816.3:p.Lys1680Arg
ENST00000307340.8:c.5039A>G (USH2A) MANE Select ENSP00000305941.3:p.Lys1680Arg
NM_206933.2:c.5039A>G (USH2A) NP_996816.2:p.Lys1680Arg
NM_206933.3:c.5039A>G (USH2A) NP_996816.2:p.Lys1680Arg
NR_125992.1:n.266-1896T>C (USH2A-AS2)
NR_125993.1:n.137-1896T>C (USH2A-AS2)
ENST00000307340.7:c.5039A>G (USH2A) ENSP00000305941.3:p.Lys1680Arg
ENST00000463147.1:n.283A>G (USH2A)
ENST00000481786.1:n.281A>G (USH2A)
ENST00000674083.1:c.5039A>G (USH2A) ENSP00000501296.1:p.Lys1680Arg
Search 100 bp 5'
Search 100 bp 3'