Canonical Allele Identifier: CA179592

Gene: USH2A

Linked Data

• ClinVar Variation Id: 166531
• ClinVar RCV Id: RCV000152636 ; RCV001097552 ; RCV001097551 ; RCV001520496
• dbSNP Id: rs116367260
• ExAC: 1:216592034 C / T
• gnomAD v2: 1-216592034-C-T
• gnomAD v3: 1-216418692-C-T
• gnomAD v4: 1-216418692-C-T
• MyVariant Identifiers: chr1:g.216592034C>T (hg19) ; chr1:g.216418692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418692C>T , CM000663.2:g.216418692C>T	GRCh38
NC_000001.10:g.216592034C>T , CM000663.1:g.216592034C>T	GRCh37
NC_000001.9:g.214658657C>T	NCBI36
NG_009497.1:g.9705G>A
NG_009497.2:g.9757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.486-13G>A MANE Select	ENSP00000305941.3:n.486-13G>A
ENST00000674083.1:c.486-13G>A	ENSP00000501296.1:n.486-13G>A
ENST00000307340.7:c.486-13G>A	ENSP00000305941.3:n.486-13G>A
ENST00000366942.3:c.486-13G>A	ENSP00000355909.3:n.486-13G>A
NM_007123.5:c.486-13G>A	NP_009054.5:n.486-13G>A
NM_206933.2:c.486-13G>A	NP_996816.2:n.486-13G>A
NM_206933.3:c.486-13G>A	NP_996816.2:n.486-13G>A
NM_007123.6:c.486-13G>A	NP_009054.6:n.486-13G>A
NM_206933.4:c.486-13G>A MANE Select	NP_996816.3:n.486-13G>A