Canonical Allele Identifier: CA179586

Gene: USH2A

Linked Data

• ClinVar Variation Id: 166524
• ClinVar RCV Id: RCV000152632 ; RCV000941463 ; RCV001101111 ; RCV001097357 ; RCV003888580
• dbSNP Id: rs187380128
• ExAC: 1:216495261 G / A
• gnomAD v2: 1-216495261-G-A
• gnomAD v3: 1-216321919-G-A
• gnomAD v4: 1-216321919-G-A
• MyVariant Identifiers: chr1:g.216495261G>A (hg19) ; chr1:g.216321919G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216321919G>A , CM000663.2:g.216321919G>A	GRCh38
NC_000001.10:g.216495261G>A , CM000663.1:g.216495261G>A	GRCh37
NC_000001.9:g.214561884G>A	NCBI36
NG_009497.1:g.106478C>T
NG_009497.2:g.106530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1608C>T MANE Select	ENSP00000305941.3:p.Cys536=
ENST00000674083.1:c.1608C>T	ENSP00000501296.1:p.Cys536=
ENST00000307340.7:c.1608C>T	ENSP00000305941.3:p.Cys536=
ENST00000366942.3:c.1608C>T	ENSP00000355909.3:p.Cys536=
NM_007123.5:c.1608C>T	NP_009054.5:p.Cys536=
NM_206933.2:c.1608C>T	NP_996816.2:p.Cys536=
NM_206933.3:c.1608C>T	NP_996816.2:p.Cys536=
NM_007123.6:c.1608C>T	NP_009054.6:p.Cys536=
NM_206933.4:c.1608C>T MANE Select	NP_996816.3:p.Cys536=