Canonical Allele Identifier: CA344865474
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1035685
ClinVar RCV Id: RCV001338586
dbSNP Id: rs2036067969

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247157G>A , CM000663.2:g.216247157G>A GRCh38
NC_000001.10:g.216420499G>A , CM000663.1:g.216420499G>A GRCh37
NC_000001.9:g.214487122G>A NCBI36
NG_009497.1:g.181240C>T
NG_009497.2:g.181292C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2237C>T MANE Select ENSP00000305941.3:p.Pro746Leu
ENST00000674083.1:c.2237C>T ENSP00000501296.1:p.Pro746Leu
ENST00000307340.7:c.2237C>T ENSP00000305941.3:p.Pro746Leu
ENST00000366942.3:c.2237C>T ENSP00000355909.3:p.Pro746Leu
NM_007123.5:c.2237C>T NP_009054.5:p.Pro746Leu
NM_206933.2:c.2237C>T NP_996816.2:p.Pro746Leu
NM_206933.3:c.2237C>T NP_996816.2:p.Pro746Leu
NM_007123.6:c.2237C>T NP_009054.6:p.Pro746Leu
NM_206933.4:c.2237C>T MANE Select NP_996816.3:p.Pro746Leu