Canonical Allele Identifier: CA1393487
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs543780464
ExAC: 1:215848918 C / T
gnomAD v2: 1-215848918-C-T
gnomAD v4: 1-215675576-C-T
MyVariant Identifiers: chr1:g.215848918C>T (hg19) chr1:g.215675576C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675576C>T , CM000663.2:g.215675576C>T GRCh38
NC_000001.10:g.215848918C>T , CM000663.1:g.215848918C>T GRCh37
NC_000001.9:g.213915541C>T NCBI36
NG_009497.1:g.752821G>A
NG_009497.2:g.752873G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12335G>A MANE Select ENSP00000305941.3:p.Gly4112Asp
ENST00000674083.1:c.12335G>A ENSP00000501296.1:p.Gly4112Asp
ENST00000307340.7:c.12335G>A ENSP00000305941.3:p.Gly4112Asp
NM_206933.2:c.12335G>A NP_996816.2:p.Gly4112Asp
NM_206933.3:c.12335G>A NP_996816.2:p.Gly4112Asp
NM_206933.4:c.12335G>A MANE Select NP_996816.3:p.Gly4112Asp
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