Canonical Allele Identifier: CA344851378
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215848960T>G (hg19) chr1:g.215675618T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675618T>G , CM000663.2:g.215675618T>G GRCh38
NC_000001.10:g.215848960T>G , CM000663.1:g.215848960T>G GRCh37
NC_000001.9:g.213915583T>G NCBI36
NG_009497.1:g.752779A>C
NG_009497.2:g.752831A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-2A>C MANE Select ENSP00000305941.3:n.12295-2A>C
ENST00000674083.1:c.12295-2A>C ENSP00000501296.1:n.12295-2A>C
ENST00000307340.7:c.12295-2A>C ENSP00000305941.3:n.12295-2A>C
NM_206933.2:c.12295-2A>C NP_996816.2:n.12295-2A>C
NM_206933.3:c.12295-2A>C NP_996816.2:n.12295-2A>C
NM_206933.4:c.12295-2A>C MANE Select NP_996816.3:n.12295-2A>C
Search 100 bp 5'
Search 100 bp 3'