Canonical Allele Identifier: CA1394829

Gene: USH2A

Linked Data

• ClinVar Variation Id: 286836
• ClinVar RCV Id: RCV000373313 ; RCV000504866 ; RCV000670917 ; RCV000826074 ; RCV001073464 ; RCV001274241
• dbSNP Id: rs483353056
• ExAC: 1:216073536 G / A
• gnomAD v2: 1-216073536-G-A
• gnomAD v3: 1-215900194-G-A
• gnomAD v4: 1-215900194-G-A
• COSMIC: COSM3483518 ; COSM3483519
• MyVariant Identifiers: chr1:g.216073536G>A (hg19) ; chr1:g.215900194G>A (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215900194G>A , CM000663.2:g.215900194G>A	GRCh38
NC_000001.10:g.216073536G>A , CM000663.1:g.216073536G>A	GRCh37
NC_000001.9:g.214140159G>A	NCBI36
NG_009497.1:g.528203C>T
NG_009497.2:g.528255C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7475C>T MANE Select	ENSP00000305941.3:p.Ser2492Leu
ENST00000674083.1:c.7475C>T	ENSP00000501296.1:p.Ser2492Leu
ENST00000307340.7:c.7475C>T	ENSP00000305941.3:p.Ser2492Leu
NM_206933.2:c.7475C>T	NP_996816.2:p.Ser2492Leu
NM_206933.3:c.7475C>T	NP_996816.2:p.Ser2492Leu
NM_206933.4:c.7475C>T MANE Select	NP_996816.3:p.Ser2492Leu