Canonical Allele Identifier: CA2698061503
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs2102778443
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798898G>T , CM000663.2:g.215798898G>T GRCh38
NC_000001.10:g.215972240G>T , CM000663.1:g.215972240G>T GRCh37
NC_000001.9:g.214038863G>T NCBI36
NG_009497.1:g.629499C>A
NG_009497.2:g.629551C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9958+9C>A MANE Select ENSP00000305941.3:n.9958+9C>A
ENST00000674083.1:c.9958+9C>A ENSP00000501296.1:n.9958+9C>A
ENST00000307340.7:c.9958+9C>A ENSP00000305941.3:n.9958+9C>A
NM_206933.2:c.9958+9C>A NP_996816.2:n.9958+9C>A
NM_206933.3:c.9958+9C>A NP_996816.2:n.9958+9C>A
NM_206933.4:c.9958+9C>A MANE Select NP_996816.3:n.9958+9C>A
Search 100 bp 5'
Search 100 bp 3'