Canonical Allele Identifier: CA344821837
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215987156C>G (hg19) chr1:g.215813814C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215813814C>G , CM000663.2:g.215813814C>G GRCh38
NC_000001.10:g.215987156C>G , CM000663.1:g.215987156C>G GRCh37
NC_000001.9:g.214053779C>G NCBI36
NG_009497.1:g.614583G>C
NG_009497.2:g.614635G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9661G>C MANE Select ENSP00000305941.3:p.Val3221Leu
ENST00000674083.1:c.9661G>C ENSP00000501296.1:p.Val3221Leu
ENST00000307340.7:c.9661G>C ENSP00000305941.3:p.Val3221Leu
NM_206933.2:c.9661G>C NP_996816.2:p.Val3221Leu
NM_206933.3:c.9661G>C NP_996816.2:p.Val3221Leu
NM_206933.4:c.9661G>C MANE Select NP_996816.3:p.Val3221Leu
Search 100 bp 5'
Search 100 bp 3'