Canonical Allele Identifier: CA143499

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48522
• ClinVar RCV Id: RCV000041848 ; RCV000881175 ; RCV001099314 ; RCV001099313 ; RCV004537152
• dbSNP Id: rs111033479
• ExAC: 1:216595201 C / T
• gnomAD v2: 1-216595201-C-T
• gnomAD v3: 1-216421859-C-T
• gnomAD v4: 1-216421859-C-T
• MyVariant Identifiers: chr1:g.216595201C>T (hg19) ; chr1:g.216421859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216421859C>T , CM000663.2:g.216421859C>T	GRCh38
NC_000001.10:g.216595201C>T , CM000663.1:g.216595201C>T	GRCh37
NC_000001.9:g.214661824C>T	NCBI36
NG_009497.1:g.6538G>A
NG_009497.2:g.6590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.478G>A MANE Select	ENSP00000305941.3:p.Gly160Ser
ENST00000674083.1:c.478G>A	ENSP00000501296.1:p.Gly160Ser
ENST00000307340.7:c.478G>A	ENSP00000305941.3:p.Gly160Ser
ENST00000366942.3:c.478G>A	ENSP00000355909.3:p.Gly160Ser
NM_007123.5:c.478G>A	NP_009054.5:p.Gly160Ser
NM_206933.2:c.478G>A	NP_996816.2:p.Gly160Ser
NM_206933.3:c.478G>A	NP_996816.2:p.Gly160Ser
NM_007123.6:c.478G>A	NP_009054.6:p.Gly160Ser
NM_206933.4:c.478G>A MANE Select	NP_996816.3:p.Gly160Ser