Canonical Allele Identifier: CA344822368
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1066988
ClinVar RCV Id: RCV001378130
dbSNP Id: rs111033382
MyVariant Identifiers: chr1:g.215933001C>G (hg19) chr1:g.215759659C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215759659C>G , CM000663.2:g.215759659C>G GRCh38
NC_000001.10:g.215933001C>G , CM000663.1:g.215933001C>G GRCh37
NC_000001.9:g.213999624C>G NCBI36
NG_009497.1:g.668738G>C
NG_009497.2:g.668790G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.11231+1G>C MANE Select ENSP00000305941.3:n.11231+1G>C
ENST00000674083.1:c.11231+1G>C ENSP00000501296.1:n.11231+1G>C
ENST00000307340.7:c.11231+1G>C ENSP00000305941.3:n.11231+1G>C
NM_206933.2:c.11231+1G>C NP_996816.2:n.11231+1G>C
NM_206933.3:c.11231+1G>C NP_996816.2:n.11231+1G>C
NM_206933.4:c.11231+1G>C MANE Select NP_996816.3:n.11231+1G>C
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