Canonical Allele Identifier: CA344865684
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247206T>A , CM000663.2:g.216247206T>A GRCh38
NC_000001.10:g.216420548T>A , CM000663.1:g.216420548T>A GRCh37
NC_000001.9:g.214487171T>A NCBI36
NG_009497.1:g.181191A>T
NG_009497.2:g.181243A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2188A>T MANE Select ENSP00000305941.3:p.Asn730Tyr
ENST00000674083.1:c.2188A>T ENSP00000501296.1:p.Asn730Tyr
ENST00000307340.7:c.2188A>T ENSP00000305941.3:p.Asn730Tyr
ENST00000366942.3:c.2188A>T ENSP00000355909.3:p.Asn730Tyr
NM_007123.5:c.2188A>T NP_009054.5:p.Asn730Tyr
NM_206933.2:c.2188A>T NP_996816.2:p.Asn730Tyr
NM_206933.3:c.2188A>T NP_996816.2:p.Asn730Tyr
NM_007123.6:c.2188A>T NP_009054.6:p.Asn730Tyr
NM_206933.4:c.2188A>T MANE Select NP_996816.3:p.Asn730Tyr