Canonical Allele Identifier: CA1394217
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs769094829
ExAC: 1:215972503 T / A
gnomAD v4: 1-215799161-T-A
MyVariant Identifiers: chr1:g.215972503T>A (hg19) chr1:g.215799161T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799161T>A , CM000663.2:g.215799161T>A GRCh38
NC_000001.10:g.215972503T>A , CM000663.1:g.215972503T>A GRCh37
NC_000001.9:g.214039126T>A NCBI36
NG_009497.1:g.629236A>T
NG_009497.2:g.629288A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9740-36A>T MANE Select ENSP00000305941.3:n.9740-36A>T
ENST00000674083.1:c.9740-36A>T ENSP00000501296.1:n.9740-36A>T
ENST00000307340.7:c.9740-36A>T ENSP00000305941.3:n.9740-36A>T
NM_206933.2:c.9740-36A>T NP_996816.2:n.9740-36A>T
NM_206933.3:c.9740-36A>T NP_996816.2:n.9740-36A>T
NM_206933.4:c.9740-36A>T MANE Select NP_996816.3:n.9740-36A>T
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