Canonical Allele Identifier: CA1393969

Gene: USH2A

Linked Data

• ClinVar Variation Id: 287390
• ClinVar RCV Id: RCV000487925 ; RCV000678642
• dbSNP Id: rs774844491
• ExAC: 1:215955511 C / T
• gnomAD v2: 1-215955511-C-T
• gnomAD v4: 1-215782169-C-T
• COSMIC: COSM3483445 ; COSM3483446
• MyVariant Identifiers: chr1:g.215955511C>T (hg19) ; chr1:g.215782169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782169C>T , CM000663.2:g.215782169C>T	GRCh38
NC_000001.10:g.215955511C>T , CM000663.1:g.215955511C>T	GRCh37
NC_000001.9:g.214022134C>T	NCBI36
NG_009497.1:g.646228G>A
NG_009497.2:g.646280G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.10613G>A MANE Select	ENSP00000305941.3:p.Arg3538Gln
ENST00000674083.1:c.10613G>A	ENSP00000501296.1:p.Arg3538Gln
ENST00000307340.7:c.10613G>A	ENSP00000305941.3:p.Arg3538Gln
NM_206933.2:c.10613G>A	NP_996816.2:p.Arg3538Gln
NM_206933.3:c.10613G>A	NP_996816.2:p.Arg3538Gln
NM_206933.4:c.10613G>A MANE Select	NP_996816.3:p.Arg3538Gln