Canonical Allele Identifier: CA1393588
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs772463134
ExAC: 1:215901451 G / A
gnomAD v2: 1-215901451-G-A
gnomAD v4: 1-215728109-G-A
COSMIC: COSM6220786 COSM6220787
MyVariant Identifiers: chr1:g.215901451G>A (hg19) chr1:g.215728109G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728109G>A , CM000663.2:g.215728109G>A GRCh38
NC_000001.10:g.215901451G>A , CM000663.1:g.215901451G>A GRCh37
NC_000001.9:g.213968074G>A NCBI36
NG_009497.1:g.700288C>T
NG_009497.2:g.700340C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11987C>T MANE Select ENSP00000305941.3:p.Ser3996Phe
ENST00000674083.1:c.11987C>T ENSP00000501296.1:p.Ser3996Phe
ENST00000307340.7:c.11987C>T ENSP00000305941.3:p.Ser3996Phe
NM_206933.2:c.11987C>T NP_996816.2:p.Ser3996Phe
NM_206933.3:c.11987C>T NP_996816.2:p.Ser3996Phe
NM_206933.4:c.11987C>T MANE Select NP_996816.3:p.Ser3996Phe
Search 100 bp 5'
Search 100 bp 3'