Canonical Allele Identifier: CA423430376
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215972421G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799079G>T , CM000663.2:g.215799079G>T GRCh38
NC_000001.10:g.215972421G>T , CM000663.1:g.215972421G>T GRCh37
NC_000001.9:g.214039044G>T NCBI36
NG_009497.1:g.629318C>A
NG_009497.2:g.629370C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9786C>A MANE Select ENSP00000305941.3:p.Gly3262=
ENST00000674083.1:c.9786C>A ENSP00000501296.1:p.Gly3262=
ENST00000307340.7:c.9786C>A ENSP00000305941.3:p.Gly3262=
NM_206933.2:c.9786C>A NP_996816.2:p.Gly3262=
NM_206933.3:c.9786C>A NP_996816.2:p.Gly3262=
NM_206933.4:c.9786C>A MANE Select NP_996816.3:p.Gly3262=