Canonical Allele Identifier: CA1394181

Gene: USH2A

Linked Data

• ClinVar Variation Id: 505526
• ClinVar RCV Id: RCV000615396 ; RCV001829711 ; RCV001317800
• dbSNP Id: rs758614136
• ExAC: 1:215972290 C / T
• gnomAD v2: 1-215972290-C-T
• gnomAD v3: 1-215798948-C-T
• gnomAD v4: 1-215798948-C-T
• MyVariant Identifiers: chr1:g.215972290C>T (hg19) ; chr1:g.215798948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215798948C>T , CM000663.2:g.215798948C>T	GRCh38
NC_000001.10:g.215972290C>T , CM000663.1:g.215972290C>T	GRCh37
NC_000001.9:g.214038913C>T	NCBI36
NG_009497.1:g.629449G>A
NG_009497.2:g.629501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9917G>A MANE Select	ENSP00000305941.3:p.Cys3306Tyr
ENST00000674083.1:c.9917G>A	ENSP00000501296.1:p.Cys3306Tyr
ENST00000307340.7:c.9917G>A	ENSP00000305941.3:p.Cys3306Tyr
NM_206933.2:c.9917G>A	NP_996816.2:p.Cys3306Tyr
NM_206933.3:c.9917G>A	NP_996816.2:p.Cys3306Tyr
NM_206933.4:c.9917G>A MANE Select	NP_996816.3:p.Cys3306Tyr