Canonical Allele Identifier: CA2574132924
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215675651-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675651A>G , CM000663.2:g.215675651A>G GRCh38
NC_000001.10:g.215848993A>G , CM000663.1:g.215848993A>G GRCh37
NC_000001.9:g.213915616A>G NCBI36
NG_009497.1:g.752746T>C
NG_009497.2:g.752798T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-35T>C MANE Select ENSP00000305941.3:n.12295-35T>C
ENST00000674083.1:c.12295-35T>C ENSP00000501296.1:n.12295-35T>C
ENST00000307340.7:c.12295-35T>C ENSP00000305941.3:n.12295-35T>C
NM_206933.2:c.12295-35T>C NP_996816.2:n.12295-35T>C
NM_206933.3:c.12295-35T>C NP_996816.2:n.12295-35T>C
NM_206933.4:c.12295-35T>C MANE Select NP_996816.3:n.12295-35T>C
Search 100 bp 5'
Search 100 bp 3'