Canonical Allele Identifier: CA344865539
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1023734
ClinVar RCV Id: RCV001323829 RCV001830355
dbSNP Id: rs1487392425
gnomAD v3: 1-216247171-A-C
gnomAD v4: 1-216247171-A-C
MyVariant Identifiers: chr1:g.216420513A>C (hg19) chr1:g.216247171A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247171A>C , CM000663.2:g.216247171A>C GRCh38
NC_000001.10:g.216420513A>C , CM000663.1:g.216420513A>C GRCh37
NC_000001.9:g.214487136A>C NCBI36
NG_009497.1:g.181226T>G
NG_009497.2:g.181278T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2223T>G MANE Select ENSP00000305941.3:p.Asp741Glu
ENST00000674083.1:c.2223T>G ENSP00000501296.1:p.Asp741Glu
ENST00000307340.7:c.2223T>G ENSP00000305941.3:p.Asp741Glu
ENST00000366942.3:c.2223T>G ENSP00000355909.3:p.Asp741Glu
NM_007123.5:c.2223T>G NP_009054.5:p.Asp741Glu
NM_206933.2:c.2223T>G NP_996816.2:p.Asp741Glu
NM_206933.3:c.2223T>G NP_996816.2:p.Asp741Glu
NM_007123.6:c.2223T>G NP_009054.6:p.Asp741Glu
NM_206933.4:c.2223T>G MANE Select NP_996816.3:p.Asp741Glu
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