Canonical Allele Identifier: CA344826695
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1514929
ClinVar RCV Id: RCV002029660
dbSNP Id: rs2102713275
MyVariant Identifiers: chr1:g.215901371C>T (hg19) chr1:g.215728029C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728029C>T , CM000663.2:g.215728029C>T GRCh38
NC_000001.10:g.215901371C>T , CM000663.1:g.215901371C>T GRCh37
NC_000001.9:g.213967994C>T NCBI36
NG_009497.1:g.700368G>A
NG_009497.2:g.700420G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12066+1G>A MANE Select ENSP00000305941.3:n.12066+1G>A
ENST00000674083.1:c.12066+1G>A ENSP00000501296.1:n.12066+1G>A
ENST00000307340.7:c.12066+1G>A ENSP00000305941.3:n.12066+1G>A
NM_206933.2:c.12066+1G>A NP_996816.2:n.12066+1G>A
NM_206933.3:c.12066+1G>A NP_996816.2:n.12066+1G>A
NM_206933.4:c.12066+1G>A MANE Select NP_996816.3:n.12066+1G>A
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