Canonical Allele Identifier: CA1393516
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1557321
ClinVar RCV Id: RCV002194879
dbSNP Id: rs769567795
ExAC: 1:215853533 T / G
gnomAD v2: 1-215853533-T-G
gnomAD v4: 1-215680191-T-G
MyVariant Identifiers: chr1:g.215853533T>G (hg19) chr1:g.215680191T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215680191T>G , CM000663.2:g.215680191T>G GRCh38
NC_000001.10:g.215853533T>G , CM000663.1:g.215853533T>G GRCh37
NC_000001.9:g.213920156T>G NCBI36
NG_009497.1:g.748206A>C
NG_009497.2:g.748258A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12252A>C MANE Select ENSP00000305941.3:p.Leu4084=
ENST00000674083.1:c.12252A>C ENSP00000501296.1:p.Leu4084=
ENST00000307340.7:c.12252A>C ENSP00000305941.3:p.Leu4084=
NM_206933.2:c.12252A>C NP_996816.2:p.Leu4084=
NM_206933.3:c.12252A>C NP_996816.2:p.Leu4084=
NM_206933.4:c.12252A>C MANE Select NP_996816.3:p.Leu4084=
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