Canonical Allele Identifier: CA423430362
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215972400G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799058G>T , CM000663.2:g.215799058G>T GRCh38
NC_000001.10:g.215972400G>T , CM000663.1:g.215972400G>T GRCh37
NC_000001.9:g.214039023G>T NCBI36
NG_009497.1:g.629339C>A
NG_009497.2:g.629391C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9807C>A MANE Select ENSP00000305941.3:p.Gly3269=
ENST00000674083.1:c.9807C>A ENSP00000501296.1:p.Gly3269=
ENST00000307340.7:c.9807C>A ENSP00000305941.3:p.Gly3269=
NM_206933.2:c.9807C>A NP_996816.2:p.Gly3269=
NM_206933.3:c.9807C>A NP_996816.2:p.Gly3269=
NM_206933.4:c.9807C>A MANE Select NP_996816.3:p.Gly3269=