Canonical Allele Identifier: CA344850555
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215848671G>C (hg19) chr1:g.215675329G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675329G>C , CM000663.2:g.215675329G>C GRCh38
NC_000001.10:g.215848671G>C , CM000663.1:g.215848671G>C GRCh37
NC_000001.9:g.213915294G>C NCBI36
NG_009497.1:g.753068C>G
NG_009497.2:g.753120C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12582C>G MANE Select ENSP00000305941.3:p.Cys4194Trp
ENST00000674083.1:c.12582C>G ENSP00000501296.1:p.Cys4194Trp
ENST00000307340.7:c.12582C>G ENSP00000305941.3:p.Cys4194Trp
NM_206933.2:c.12582C>G NP_996816.2:p.Cys4194Trp
NM_206933.3:c.12582C>G NP_996816.2:p.Cys4194Trp
NM_206933.4:c.12582C>G MANE Select NP_996816.3:p.Cys4194Trp
Search 100 bp 5'
Search 100 bp 3'