Canonical Allele Identifier: CA1393916
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs779661605
ExAC: 1:215953312 C / A
gnomAD v2: 1-215953312-C-A
MyVariant Identifiers: chr1:g.215953312C>A (hg19) chr1:g.215779970C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779970C>A , CM000663.2:g.215779970C>A GRCh38
NC_000001.10:g.215953312C>A , CM000663.1:g.215953312C>A GRCh37
NC_000001.9:g.214019935C>A NCBI36
NG_009497.1:g.648427G>T
NG_009497.2:g.648479G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10812G>T MANE Select ENSP00000305941.3:p.Val3604=
ENST00000674083.1:c.10812G>T ENSP00000501296.1:p.Val3604=
ENST00000307340.7:c.10812G>T ENSP00000305941.3:p.Val3604=
NM_206933.2:c.10812G>T NP_996816.2:p.Val3604=
NM_206933.3:c.10812G>T NP_996816.2:p.Val3604=
NM_206933.4:c.10812G>T MANE Select NP_996816.3:p.Val3604=
Search 100 bp 5'
Search 100 bp 3'