Canonical Allele Identifier: CA344849685
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215675202-C-T
MyVariant Identifiers: chr1:g.215848544C>T (hg19) chr1:g.215675202C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675202C>T , CM000663.2:g.215675202C>T GRCh38
NC_000001.10:g.215848544C>T , CM000663.1:g.215848544C>T GRCh37
NC_000001.9:g.213915167C>T NCBI36
NG_009497.1:g.753195G>A
NG_009497.2:g.753247G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12709G>A MANE Select ENSP00000305941.3:p.Glu4237Lys
ENST00000674083.1:c.12709G>A ENSP00000501296.1:p.Glu4237Lys
ENST00000307340.7:c.12709G>A ENSP00000305941.3:p.Glu4237Lys
NM_206933.2:c.12709G>A NP_996816.2:p.Glu4237Lys
NM_206933.3:c.12709G>A NP_996816.2:p.Glu4237Lys
NM_206933.4:c.12709G>A MANE Select NP_996816.3:p.Glu4237Lys
Search 100 bp 5'
Search 100 bp 3'