Canonical Allele Identifier: CA344816379
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 636114
ClinVar RCV Id: RCV000787720
dbSNP Id: rs1571953381
MyVariant Identifiers: chr1:g.215853624C>A (hg19) chr1:g.215680282C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215680282C>A , CM000663.2:g.215680282C>A GRCh38
NC_000001.10:g.215853624C>A , CM000663.1:g.215853624C>A GRCh37
NC_000001.9:g.213920247C>A NCBI36
NG_009497.1:g.748115G>T
NG_009497.2:g.748167G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.12161G>T MANE Select ENSP00000305941.3:p.Ser4054Ile
ENST00000674083.1:c.12161G>T ENSP00000501296.1:p.Ser4054Ile
ENST00000307340.7:c.12161G>T ENSP00000305941.3:p.Ser4054Ile
NM_206933.2:c.12161G>T NP_996816.2:p.Ser4054Ile
NM_206933.3:c.12161G>T NP_996816.2:p.Ser4054Ile
NM_206933.4:c.12161G>T MANE Select NP_996816.3:p.Ser4054Ile
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