Canonical Allele Identifier: CA344841246
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215844517T>A (hg19) chr1:g.215671175T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671175T>A , CM000663.2:g.215671175T>A GRCh38
NC_000001.10:g.215844517T>A , CM000663.1:g.215844517T>A GRCh37
NC_000001.9:g.213911140T>A NCBI36
NG_009497.1:g.757222A>T
NG_009497.2:g.757274A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13930A>T MANE Select ENSP00000305941.3:p.Met4644Leu
ENST00000674083.1:c.13930A>T ENSP00000501296.1:p.Met4644Leu
ENST00000307340.7:c.13930A>T ENSP00000305941.3:p.Met4644Leu
NM_206933.2:c.13930A>T NP_996816.2:p.Met4644Leu
NM_206933.3:c.13930A>T NP_996816.2:p.Met4644Leu
NM_206933.4:c.13930A>T MANE Select NP_996816.3:p.Met4644Leu
Search 100 bp 5'
Search 100 bp 3'