Canonical Allele Identifier: CA1392633

Gene: USH2A

Linked Data

• ClinVar Variation Id: 287641
• ClinVar RCV Id: RCV000281832 ; RCV001000794 ; RCV001828242 ; RCV003463769
• dbSNP Id: rs767265734
• ExAC: 1:215799213 C / T
• gnomAD v2: 1-215799213-C-T
• gnomAD v4: 1-215625871-C-T
• MyVariant Identifiers: chr1:g.215799213C>T (hg19) ; chr1:g.215625871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215625871C>T , CM000663.2:g.215625871C>T	GRCh38
NC_000001.10:g.215799213C>T , CM000663.1:g.215799213C>T	GRCh37
NC_000001.9:g.213865836C>T	NCBI36
NG_009497.1:g.802526G>A
NG_009497.2:g.802578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.15520-1G>A MANE Select	ENSP00000305941.3:n.15520-1G>A
ENST00000674083.1:c.15592-1G>A	ENSP00000501296.1:n.15592-1G>A
ENST00000307340.7:c.15520-1G>A	ENSP00000305941.3:n.15520-1G>A
NM_206933.2:c.15520-1G>A	NP_996816.2:n.15520-1G>A
NM_206933.3:c.15520-1G>A	NP_996816.2:n.15520-1G>A
NM_206933.4:c.15520-1G>A MANE Select	NP_996816.3:n.15520-1G>A