Canonical Allele Identifier: CA1394171
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2962463
ClinVar RCV Id: RCV003825093
dbSNP Id: rs748859123
ExAC: 1:215972236 C / T
gnomAD v2: 1-215972236-C-T
gnomAD v3: 1-215798894-C-T
gnomAD v4: 1-215798894-C-T
MyVariant Identifiers: chr1:g.215972236C>T (hg19) chr1:g.215798894C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798894C>T , CM000663.2:g.215798894C>T GRCh38
NC_000001.10:g.215972236C>T , CM000663.1:g.215972236C>T GRCh37
NC_000001.9:g.214038859C>T NCBI36
NG_009497.1:g.629503G>A
NG_009497.2:g.629555G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9958+13G>A MANE Select ENSP00000305941.3:n.9958+13G>A
ENST00000674083.1:c.9958+13G>A ENSP00000501296.1:n.9958+13G>A
ENST00000307340.7:c.9958+13G>A ENSP00000305941.3:n.9958+13G>A
NM_206933.2:c.9958+13G>A NP_996816.2:n.9958+13G>A
NM_206933.3:c.9958+13G>A NP_996816.2:n.9958+13G>A
NM_206933.4:c.9958+13G>A MANE Select NP_996816.3:n.9958+13G>A
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