Canonical Allele Identifier: CA344849301
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 987401
ClinVar RCV Id: RCV001268754
dbSNP Id: rs1657973895
gnomAD v4: 1-215675152-C-T
MyVariant Identifiers: chr1:g.215848494C>T (hg19) chr1:g.215675152C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675152C>T , CM000663.2:g.215675152C>T GRCh38
NC_000001.10:g.215848494C>T , CM000663.1:g.215848494C>T GRCh37
NC_000001.9:g.213915117C>T NCBI36
NG_009497.1:g.753245G>A
NG_009497.2:g.753297G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12759G>A MANE Select ENSP00000305941.3:p.Trp4253Ter
ENST00000674083.1:c.12759G>A ENSP00000501296.1:p.Trp4253Ter
ENST00000307340.7:c.12759G>A ENSP00000305941.3:p.Trp4253Ter
NM_206933.2:c.12759G>A NP_996816.2:p.Trp4253Ter
NM_206933.3:c.12759G>A NP_996816.2:p.Trp4253Ter
NM_206933.4:c.12759G>A MANE Select NP_996816.3:p.Trp4253Ter
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