Canonical Allele Identifier: CA143302
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48407
ClinVar RCV Id: RCV000041730 RCV000756886 RCV001826589 RCV002504922 RCV003450769
dbSNP Id: rs145830318
ExAC: 1:215848510 T / C
gnomAD v2: 1-215848510-T-C
gnomAD v3: 1-215675168-T-C
gnomAD v4: 1-215675168-T-C
MyVariant Identifiers: chr1:g.215848510T>C (hg19) chr1:g.215675168T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675168T>C , CM000663.2:g.215675168T>C GRCh38
NC_000001.10:g.215848510T>C , CM000663.1:g.215848510T>C GRCh37
NC_000001.9:g.213915133T>C NCBI36
NG_009497.1:g.753229A>G
NG_009497.2:g.753281A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12743A>G MANE Select ENSP00000305941.3:p.His4248Arg
ENST00000674083.1:c.12743A>G ENSP00000501296.1:p.His4248Arg
ENST00000307340.7:c.12743A>G ENSP00000305941.3:p.His4248Arg
NM_206933.2:c.12743A>G NP_996816.2:p.His4248Arg
NM_206933.3:c.12743A>G NP_996816.2:p.His4248Arg
NM_206933.4:c.12743A>G MANE Select NP_996816.3:p.His4248Arg
Search 100 bp 5'
Search 100 bp 3'