Canonical Allele Identifier: CA1393927
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1403889
ClinVar RCV Id: RCV001901359
dbSNP Id: rs774505414
ExAC: 1:215953368 T / A
MyVariant Identifiers: chr1:g.215953368T>A (hg19) chr1:g.215780026T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215780026T>A , CM000663.2:g.215780026T>A GRCh38
NC_000001.10:g.215953368T>A , CM000663.1:g.215953368T>A GRCh37
NC_000001.9:g.214019991T>A NCBI36
NG_009497.1:g.648371A>T
NG_009497.2:g.648423A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10756A>T MANE Select ENSP00000305941.3:p.Thr3586Ser
ENST00000674083.1:c.10756A>T ENSP00000501296.1:p.Thr3586Ser
ENST00000307340.7:c.10756A>T ENSP00000305941.3:p.Thr3586Ser
NM_206933.2:c.10756A>T NP_996816.2:p.Thr3586Ser
NM_206933.3:c.10756A>T NP_996816.2:p.Thr3586Ser
NM_206933.4:c.10756A>T MANE Select NP_996816.3:p.Thr3586Ser
Search 100 bp 5'
Search 100 bp 3'