Canonical Allele Identifier: CA143585
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48576
dbSNP Id: rs200038092

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215965369A>C , CM000663.2:g.215965369A>C GRCh38
NC_000001.10:g.216138711A>C , CM000663.1:g.216138711A>C GRCh37
NC_000001.9:g.214205334A>C NCBI36
NG_009497.1:g.463028T>G
NG_009497.2:g.463080T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.7068T>G MANE Select ENSP00000305941.3:p.Asn2356Lys
ENST00000674083.1:c.7068T>G ENSP00000501296.1:p.Asn2356Lys
ENST00000307340.7:c.7068T>G ENSP00000305941.3:p.Asn2356Lys
NM_206933.2:c.7068T>G NP_996816.2:p.Asn2356Lys
NM_206933.3:c.7068T>G NP_996816.2:p.Asn2356Lys
NM_206933.4:c.7068T>G MANE Select NP_996816.3:p.Asn2356Lys