Canonical Allele Identifier: CA182586

Gene: USH2A

Linked Data

• ClinVar Variation Id: 178573
• ClinVar RCV Id: RCV000155321 ; RCV000724907 ; RCV001272951 ; RCV004019860
• dbSNP Id: rs114116572
• ExAC: 1:215848655 A / C
• gnomAD v2: 1-215848655-A-C
• gnomAD v3: 1-215675313-A-C
• gnomAD v4: 1-215675313-A-C
• MyVariant Identifiers: chr1:g.215848655A>C (hg19) ; chr1:g.215675313A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215675313A>C , CM000663.2:g.215675313A>C	GRCh38
NC_000001.10:g.215848655A>C , CM000663.1:g.215848655A>C	GRCh37
NC_000001.9:g.213915278A>C	NCBI36
NG_009497.1:g.753084T>G
NG_009497.2:g.753136T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12598T>G MANE Select	ENSP00000305941.3:p.Trp4200Gly
ENST00000674083.1:c.12598T>G	ENSP00000501296.1:p.Trp4200Gly
ENST00000307340.7:c.12598T>G	ENSP00000305941.3:p.Trp4200Gly
NM_206933.2:c.12598T>G	NP_996816.2:p.Trp4200Gly
NM_206933.3:c.12598T>G	NP_996816.2:p.Trp4200Gly
NM_206933.4:c.12598T>G MANE Select	NP_996816.3:p.Trp4200Gly