Canonical Allele Identifier: CA423312882
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215953192C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779850C>A , CM000663.2:g.215779850C>A GRCh38
NC_000001.10:g.215953192C>A , CM000663.1:g.215953192C>A GRCh37
NC_000001.9:g.214019815C>A NCBI36
NG_009497.1:g.648547G>T
NG_009497.2:g.648599G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10932G>T MANE Select ENSP00000305941.3:p.Thr3644=
ENST00000674083.1:c.10932G>T ENSP00000501296.1:p.Thr3644=
ENST00000307340.7:c.10932G>T ENSP00000305941.3:p.Thr3644=
NM_206933.2:c.10932G>T NP_996816.2:p.Thr3644=
NM_206933.3:c.10932G>T NP_996816.2:p.Thr3644=
NM_206933.4:c.10932G>T MANE Select NP_996816.3:p.Thr3644=