Canonical Allele Identifier: CA182590

Gene: USH2A

Linked Data

• ClinVar Variation Id: 178575
• ClinVar RCV Id: RCV000155323 ; RCV001271132 ; RCV001473378 ; RCV002514994
• dbSNP Id: rs142617606
• ExAC: 1:215901704 C / T
• gnomAD v2: 1-215901704-C-T
• gnomAD v3: 1-215728362-C-T
• gnomAD v4: 1-215728362-C-T
• COSMIC: COSM3732767 ; COSM3732768
• MyVariant Identifiers: chr1:g.215901704C>T (hg19) ; chr1:g.215728362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215728362C>T , CM000663.2:g.215728362C>T	GRCh38
NC_000001.10:g.215901704C>T , CM000663.1:g.215901704C>T	GRCh37
NC_000001.9:g.213968327C>T	NCBI36
NG_009497.1:g.700035G>A
NG_009497.2:g.700087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11734G>A MANE Select	ENSP00000305941.3:p.Glu3912Lys
ENST00000674083.1:c.11734G>A	ENSP00000501296.1:p.Glu3912Lys
ENST00000307340.7:c.11734G>A	ENSP00000305941.3:p.Glu3912Lys
NM_206933.2:c.11734G>A	NP_996816.2:p.Glu3912Lys
NM_206933.3:c.11734G>A	NP_996816.2:p.Glu3912Lys
NM_206933.4:c.11734G>A MANE Select	NP_996816.3:p.Glu3912Lys