Canonical Allele Identifier: CA344850813
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675433C>A , CM000663.2:g.215675433C>A GRCh38
NC_000001.10:g.215848775C>A , CM000663.1:g.215848775C>A GRCh37
NC_000001.9:g.213915398C>A NCBI36
NG_009497.1:g.752964G>T
NG_009497.2:g.753016G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12478G>T MANE Select ENSP00000305941.3:p.Ala4160Ser
ENST00000674083.1:c.12478G>T ENSP00000501296.1:p.Ala4160Ser
ENST00000307340.7:c.12478G>T ENSP00000305941.3:p.Ala4160Ser
NM_206933.2:c.12478G>T NP_996816.2:p.Ala4160Ser
NM_206933.3:c.12478G>T NP_996816.2:p.Ala4160Ser
NM_206933.4:c.12478G>T MANE Select NP_996816.3:p.Ala4160Ser