Canonical Allele Identifier: CA344851038
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215848856C>T (hg19) chr1:g.215675514C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675514C>T , CM000663.2:g.215675514C>T GRCh38
NC_000001.10:g.215848856C>T , CM000663.1:g.215848856C>T GRCh37
NC_000001.9:g.213915479C>T NCBI36
NG_009497.1:g.752883G>A
NG_009497.2:g.752935G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12397G>A MANE Select ENSP00000305941.3:p.Glu4133Lys
ENST00000674083.1:c.12397G>A ENSP00000501296.1:p.Glu4133Lys
ENST00000307340.7:c.12397G>A ENSP00000305941.3:p.Glu4133Lys
NM_206933.2:c.12397G>A NP_996816.2:p.Glu4133Lys
NM_206933.3:c.12397G>A NP_996816.2:p.Glu4133Lys
NM_206933.4:c.12397G>A MANE Select NP_996816.3:p.Glu4133Lys
Search 100 bp 5'
Search 100 bp 3'