Canonical Allele Identifier: CA1393464
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1209801
ClinVar RCV Id: RCV001579148 RCV001579149
dbSNP Id: rs747947192
ExAC: 1:215848802 C / G
gnomAD v2: 1-215848802-C-G
gnomAD v4: 1-215675460-C-G
MyVariant Identifiers: chr1:g.215848802C>G (hg19) chr1:g.215675460C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675460C>G , CM000663.2:g.215675460C>G GRCh38
NC_000001.10:g.215848802C>G , CM000663.1:g.215848802C>G GRCh37
NC_000001.9:g.213915425C>G NCBI36
NG_009497.1:g.752937G>C
NG_009497.2:g.752989G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12451G>C MANE Select ENSP00000305941.3:p.Asp4151His
ENST00000674083.1:c.12451G>C ENSP00000501296.1:p.Asp4151His
ENST00000307340.7:c.12451G>C ENSP00000305941.3:p.Asp4151His
NM_206933.2:c.12451G>C NP_996816.2:p.Asp4151His
NM_206933.3:c.12451G>C NP_996816.2:p.Asp4151His
NM_206933.4:c.12451G>C MANE Select NP_996816.3:p.Asp4151His
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