Canonical Allele Identifier: CA1395315
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs750620858
ExAC: 1:216243648 A / C
gnomAD v2: 1-216243648-A-C
gnomAD v3: 1-216070306-A-C
gnomAD v4: 1-216070306-A-C
MyVariant Identifiers: chr1:g.216243648A>C (hg19) chr1:g.216070306A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070306A>C , CM000663.2:g.216070306A>C GRCh38
NC_000001.10:g.216243648A>C , CM000663.1:g.216243648A>C GRCh37
NC_000001.9:g.214310271A>C NCBI36
NG_009497.1:g.358091T>G
NG_009497.2:g.358143T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.5858-14T>G MANE Select ENSP00000305941.3:n.5858-14T>G
ENST00000674083.1:c.5858-14T>G ENSP00000501296.1:n.5858-14T>G
ENST00000307340.7:c.5858-14T>G ENSP00000305941.3:n.5858-14T>G
NM_206933.2:c.5858-14T>G NP_996816.2:n.5858-14T>G
NM_206933.3:c.5858-14T>G NP_996816.2:n.5858-14T>G
NM_206933.4:c.5858-14T>G MANE Select NP_996816.3:n.5858-14T>G
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