Canonical Allele Identifier: CA1393572
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs773179402
ExAC: 1:215901387 A / G
gnomAD v4: 1-215728045-A-G
COSMIC: COSM4739570 COSM4739571
MyVariant Identifiers: chr1:g.215901387A>G (hg19) chr1:g.215728045A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728045A>G , CM000663.2:g.215728045A>G GRCh38
NC_000001.10:g.215901387A>G , CM000663.1:g.215901387A>G GRCh37
NC_000001.9:g.213968010A>G NCBI36
NG_009497.1:g.700352T>C
NG_009497.2:g.700404T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12051T>C MANE Select ENSP00000305941.3:p.His4017=
ENST00000674083.1:c.12051T>C ENSP00000501296.1:p.His4017=
ENST00000307340.7:c.12051T>C ENSP00000305941.3:p.His4017=
NM_206933.2:c.12051T>C NP_996816.2:p.His4017=
NM_206933.3:c.12051T>C NP_996816.2:p.His4017=
NM_206933.4:c.12051T>C MANE Select NP_996816.3:p.His4017=
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