Canonical Allele Identifier: CA344825024
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1305948120

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817113G>A , CM000663.2:g.215817113G>A GRCh38
NC_000001.10:g.215990455G>A , CM000663.1:g.215990455G>A GRCh37
NC_000001.9:g.214057078G>A NCBI36
NG_009497.1:g.611284C>T
NG_009497.2:g.611336C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9454C>T MANE Select ENSP00000305941.3:p.Pro3152Ser
ENST00000674083.1:c.9454C>T ENSP00000501296.1:p.Pro3152Ser
ENST00000307340.7:c.9454C>T ENSP00000305941.3:p.Pro3152Ser
NM_206933.2:c.9454C>T NP_996816.2:p.Pro3152Ser
NM_206933.3:c.9454C>T NP_996816.2:p.Pro3152Ser
NM_206933.4:c.9454C>T MANE Select NP_996816.3:p.Pro3152Ser