Canonical Allele Identifier: CA344824855
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215990437T>C (hg19) chr1:g.215817095T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817095T>C , CM000663.2:g.215817095T>C GRCh38
NC_000001.10:g.215990437T>C , CM000663.1:g.215990437T>C GRCh37
NC_000001.9:g.214057060T>C NCBI36
NG_009497.1:g.611302A>G
NG_009497.2:g.611354A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9472A>G MANE Select ENSP00000305941.3:p.Lys3158Glu
ENST00000674083.1:c.9472A>G ENSP00000501296.1:p.Lys3158Glu
ENST00000307340.7:c.9472A>G ENSP00000305941.3:p.Lys3158Glu
NM_206933.2:c.9472A>G NP_996816.2:p.Lys3158Glu
NM_206933.3:c.9472A>G NP_996816.2:p.Lys3158Glu
NM_206933.4:c.9472A>G MANE Select NP_996816.3:p.Lys3158Glu
Search 100 bp 5'
Search 100 bp 3'