Canonical Allele Identifier: CA528711578
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1371364880
gnomAD v2: 1-215955342-C-T
gnomAD v4: 1-215782000-C-T
MyVariant Identifiers: chr1:g.215955342C>T (hg19) chr1:g.215782000C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782000C>T , CM000663.2:g.215782000C>T GRCh38
NC_000001.10:g.215955342C>T , CM000663.1:g.215955342C>T GRCh37
NC_000001.9:g.214021965C>T NCBI36
NG_009497.1:g.646397G>A
NG_009497.2:g.646449G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10740+42G>A MANE Select ENSP00000305941.3:n.10740+42G>A
ENST00000674083.1:c.10740+42G>A ENSP00000501296.1:n.10740+42G>A
ENST00000307340.7:c.10740+42G>A ENSP00000305941.3:n.10740+42G>A
NM_206933.2:c.10740+42G>A NP_996816.2:n.10740+42G>A
NM_206933.3:c.10740+42G>A NP_996816.2:n.10740+42G>A
NM_206933.4:c.10740+42G>A MANE Select NP_996816.3:n.10740+42G>A
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