Canonical Allele Identifier: CA344822416
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1660921907

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215759670G>A , CM000663.2:g.215759670G>A GRCh38
NC_000001.10:g.215933012G>A , CM000663.1:g.215933012G>A GRCh37
NC_000001.9:g.213999635G>A NCBI36
NG_009497.1:g.668727C>T
NG_009497.2:g.668779C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11221C>T MANE Select ENSP00000305941.3:p.Pro3741Ser
ENST00000674083.1:c.11221C>T ENSP00000501296.1:p.Pro3741Ser
ENST00000307340.7:c.11221C>T ENSP00000305941.3:p.Pro3741Ser
NM_206933.2:c.11221C>T NP_996816.2:p.Pro3741Ser
NM_206933.3:c.11221C>T NP_996816.2:p.Pro3741Ser
NM_206933.4:c.11221C>T MANE Select NP_996816.3:p.Pro3741Ser