Canonical Allele Identifier: CA344850515
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215848661T>A (hg19) chr1:g.215675319T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675319T>A , CM000663.2:g.215675319T>A GRCh38
NC_000001.10:g.215848661T>A , CM000663.1:g.215848661T>A GRCh37
NC_000001.9:g.213915284T>A NCBI36
NG_009497.1:g.753078A>T
NG_009497.2:g.753130A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12592A>T MANE Select ENSP00000305941.3:p.Lys4198Ter
ENST00000674083.1:c.12592A>T ENSP00000501296.1:p.Lys4198Ter
ENST00000307340.7:c.12592A>T ENSP00000305941.3:p.Lys4198Ter
NM_206933.2:c.12592A>T NP_996816.2:p.Lys4198Ter
NM_206933.3:c.12592A>T NP_996816.2:p.Lys4198Ter
NM_206933.4:c.12592A>T MANE Select NP_996816.3:p.Lys4198Ter
Search 100 bp 5'
Search 100 bp 3'