Canonical Allele Identifier: CA1393497
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs781090300
ExAC: 1:215848986 A / C
gnomAD v2: 1-215848986-A-C
gnomAD v4: 1-215675644-A-C
MyVariant Identifiers: chr1:g.215848986A>C (hg19) chr1:g.215675644A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675644A>C , CM000663.2:g.215675644A>C GRCh38
NC_000001.10:g.215848986A>C , CM000663.1:g.215848986A>C GRCh37
NC_000001.9:g.213915609A>C NCBI36
NG_009497.1:g.752753T>G
NG_009497.2:g.752805T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-28T>G MANE Select ENSP00000305941.3:n.12295-28T>G
ENST00000674083.1:c.12295-28T>G ENSP00000501296.1:n.12295-28T>G
ENST00000307340.7:c.12295-28T>G ENSP00000305941.3:n.12295-28T>G
NM_206933.2:c.12295-28T>G NP_996816.2:n.12295-28T>G
NM_206933.3:c.12295-28T>G NP_996816.2:n.12295-28T>G
NM_206933.4:c.12295-28T>G MANE Select NP_996816.3:n.12295-28T>G
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