Canonical Allele Identifier: CA143336

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48428
• ClinVar RCV Id: RCV000041751 ; RCV001245454 ; RCV001272937 ; RCV001376435
• dbSNP Id: rs372966682
• ExAC: 1:215844346 C / T
• gnomAD v2: 1-215844346-C-T
• gnomAD v3: 1-215671004-C-T
• gnomAD v4: 1-215671004-C-T
• COSMIC: COSM425291 ; COSM4231160
• MyVariant Identifiers: chr1:g.215844346C>T (hg19) ; chr1:g.215671004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671004C>T , CM000663.2:g.215671004C>T	GRCh38
NC_000001.10:g.215844346C>T , CM000663.1:g.215844346C>T	GRCh37
NC_000001.9:g.213910969C>T	NCBI36
NG_009497.1:g.757393G>A
NG_009497.2:g.757445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14101G>A MANE Select	ENSP00000305941.3:p.Glu4701Lys
ENST00000674083.1:c.14101G>A	ENSP00000501296.1:p.Glu4701Lys
ENST00000307340.7:c.14101G>A	ENSP00000305941.3:p.Glu4701Lys
NM_206933.2:c.14101G>A	NP_996816.2:p.Glu4701Lys
NM_206933.3:c.14101G>A	NP_996816.2:p.Glu4701Lys
NM_206933.4:c.14101G>A MANE Select	NP_996816.3:p.Glu4701Lys