Canonical Allele Identifier: CA2650503257
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215799213-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799213G>A , CM000663.2:g.215799213G>A GRCh38
NC_000001.10:g.215972555G>A , CM000663.1:g.215972555G>A GRCh37
NC_000001.9:g.214039178G>A NCBI36
NG_009497.1:g.629184C>T
NG_009497.2:g.629236C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9740-88C>T MANE Select ENSP00000305941.3:n.9740-88C>T
ENST00000674083.1:c.9740-88C>T ENSP00000501296.1:n.9740-88C>T
ENST00000307340.7:c.9740-88C>T ENSP00000305941.3:n.9740-88C>T
NM_206933.2:c.9740-88C>T NP_996816.2:n.9740-88C>T
NM_206933.3:c.9740-88C>T NP_996816.2:n.9740-88C>T
NM_206933.4:c.9740-88C>T MANE Select NP_996816.3:n.9740-88C>T
Search 100 bp 5'
Search 100 bp 3'