Canonical Allele Identifier: CA344828490
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215901527G>T (hg19) chr1:g.215728185G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728185G>T , CM000663.2:g.215728185G>T GRCh38
NC_000001.10:g.215901527G>T , CM000663.1:g.215901527G>T GRCh37
NC_000001.9:g.213968150G>T NCBI36
NG_009497.1:g.700212C>A
NG_009497.2:g.700264C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11911C>A MANE Select ENSP00000305941.3:p.Pro3971Thr
ENST00000674083.1:c.11911C>A ENSP00000501296.1:p.Pro3971Thr
ENST00000307340.7:c.11911C>A ENSP00000305941.3:p.Pro3971Thr
NM_206933.2:c.11911C>A NP_996816.2:p.Pro3971Thr
NM_206933.3:c.11911C>A NP_996816.2:p.Pro3971Thr
NM_206933.4:c.11911C>A MANE Select NP_996816.3:p.Pro3971Thr
Search 100 bp 5'
Search 100 bp 3'