Canonical Allele Identifier: CA344840597
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215844425T>A (hg19) chr1:g.215671083T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671083T>A , CM000663.2:g.215671083T>A GRCh38
NC_000001.10:g.215844425T>A , CM000663.1:g.215844425T>A GRCh37
NC_000001.9:g.213911048T>A NCBI36
NG_009497.1:g.757314A>T
NG_009497.2:g.757366A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14022A>T MANE Select ENSP00000305941.3:p.Arg4674Ser
ENST00000674083.1:c.14022A>T ENSP00000501296.1:p.Arg4674Ser
ENST00000307340.7:c.14022A>T ENSP00000305941.3:p.Arg4674Ser
NM_206933.2:c.14022A>T NP_996816.2:p.Arg4674Ser
NM_206933.3:c.14022A>T NP_996816.2:p.Arg4674Ser
NM_206933.4:c.14022A>T MANE Select NP_996816.3:p.Arg4674Ser
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