Canonical Allele Identifier: CA179526

Gene: USH2A

Linked Data

• ClinVar Variation Id: 166464
• ClinVar RCV Id: RCV000152585 ; RCV000673073 ; RCV001244965
• dbSNP Id: rs143352618
• ExAC: 1:216011397 T / C
• gnomAD v2: 1-216011397-T-C
• gnomAD v3: 1-215838055-T-C
• gnomAD v4: 1-215838055-T-C
• MyVariant Identifiers: chr1:g.216011397T>C (hg19) ; chr1:g.215838055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215838055T>C , CM000663.2:g.215838055T>C	GRCh38
NC_000001.10:g.216011397T>C , CM000663.1:g.216011397T>C	GRCh37
NC_000001.9:g.214078020T>C	NCBI36
NG_009497.1:g.590342A>G
NG_009497.2:g.590394A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9307A>G MANE Select	ENSP00000305941.3:p.Ile3103Val
ENST00000674083.1:c.9307A>G	ENSP00000501296.1:p.Ile3103Val
ENST00000307340.7:c.9307A>G	ENSP00000305941.3:p.Ile3103Val
NM_206933.2:c.9307A>G	NP_996816.2:p.Ile3103Val
NM_206933.3:c.9307A>G	NP_996816.2:p.Ile3103Val
NM_206933.4:c.9307A>G MANE Select	NP_996816.3:p.Ile3103Val