Canonical Allele Identifier: CA179533

Gene: USH2A

Linked Data

• ClinVar Variation Id: 166468
• ClinVar RCV Id: RCV000152593 ; RCV000727256 ; RCV001276967
• dbSNP Id: rs199618999
• ExAC: 1:216051229 C / T
• gnomAD v2: 1-216051229-C-T
• gnomAD v3: 1-215877887-C-T
• gnomAD v4: 1-215877887-C-T
• MyVariant Identifiers: chr1:g.216051229C>T (hg19) ; chr1:g.215877887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215877887C>T , CM000663.2:g.215877887C>T	GRCh38
NC_000001.10:g.216051229C>T , CM000663.1:g.216051229C>T	GRCh37
NC_000001.9:g.214117852C>T	NCBI36
NG_009497.1:g.550510G>A
NG_009497.2:g.550562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.8559-7G>A MANE Select	ENSP00000305941.3:n.8559-7G>A
ENST00000674083.1:c.8559-7G>A	ENSP00000501296.1:n.8559-7G>A
ENST00000307340.7:c.8559-7G>A	ENSP00000305941.3:n.8559-7G>A
NM_206933.2:c.8559-7G>A	NP_996816.2:n.8559-7G>A
NM_206933.3:c.8559-7G>A	NP_996816.2:n.8559-7G>A
NM_206933.4:c.8559-7G>A MANE Select	NP_996816.3:n.8559-7G>A