Canonical Allele Identifier: CA344863985
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.216419925A>C (hg19) chr1:g.216246583A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246583A>C , CM000663.2:g.216246583A>C GRCh38
NC_000001.10:g.216419925A>C , CM000663.1:g.216419925A>C GRCh37
NC_000001.9:g.214486548A>C NCBI36
NG_009497.1:g.181814T>G
NG_009497.2:g.181866T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2809+2T>G MANE Select ENSP00000305941.3:n.2809+2T>G
ENST00000674083.1:c.2809+2T>G ENSP00000501296.1:n.2809+2T>G
ENST00000307340.7:c.2809+2T>G ENSP00000305941.3:n.2809+2T>G
ENST00000366942.3:c.2809+2T>G ENSP00000355909.3:n.2809+2T>G
NM_007123.5:c.2809+2T>G NP_009054.5:n.2809+2T>G
NM_206933.2:c.2809+2T>G NP_996816.2:n.2809+2T>G
NM_206933.3:c.2809+2T>G NP_996816.2:n.2809+2T>G
NM_007123.6:c.2809+2T>G NP_009054.6:n.2809+2T>G
NM_206933.4:c.2809+2T>G MANE Select NP_996816.3:n.2809+2T>G
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