Canonical Allele Identifier: CA1393508
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 378847
ClinVar RCV Id: RCV000435312 RCV001073281 RCV001271125 RCV003449048
dbSNP Id: rs759898765
ExAC: 1:215853501 C / T
gnomAD v2: 1-215853501-C-T
gnomAD v4: 1-215680159-C-T
MyVariant Identifiers: chr1:g.215853501C>T (hg19) chr1:g.215680159C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215680159C>T , CM000663.2:g.215680159C>T GRCh38
NC_000001.10:g.215853501C>T , CM000663.1:g.215853501C>T GRCh37
NC_000001.9:g.213920124C>T NCBI36
NG_009497.1:g.748238G>A
NG_009497.2:g.748290G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12284G>A MANE Select ENSP00000305941.3:p.Gly4095Asp
ENST00000674083.1:c.12284G>A ENSP00000501296.1:p.Gly4095Asp
ENST00000307340.7:c.12284G>A ENSP00000305941.3:p.Gly4095Asp
NM_206933.2:c.12284G>A NP_996816.2:p.Gly4095Asp
NM_206933.3:c.12284G>A NP_996816.2:p.Gly4095Asp
NM_206933.4:c.12284G>A MANE Select NP_996816.3:p.Gly4095Asp
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