Canonical Allele Identifier: CA1394291

Gene: USH2A

Linked Data

• ClinVar Variation Id: 228418
• ClinVar RCV Id: RCV000217703 ; RCV000666079 ; RCV000808044 ; RCV001073320 ; RCV001808577 ; RCV004532752
• dbSNP Id: rs760225886
• ExAC: 1:215990338 C / T
• gnomAD v2: 1-215990338-C-T
• gnomAD v4: 1-215816996-C-T
• MyVariant Identifiers: chr1:g.215990338C>T (hg19) ; chr1:g.215816996C>T (hg38)
• PubMed: PMID:23737954 ; PMID:23767834 ; PMID:24938718 ; PMID:25252889

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215816996C>T , CM000663.2:g.215816996C>T	GRCh38
NC_000001.10:g.215990338C>T , CM000663.1:g.215990338C>T	GRCh37
NC_000001.9:g.214056961C>T	NCBI36
NG_009497.1:g.611401G>A
NG_009497.2:g.611453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9570+1G>A MANE Select	ENSP00000305941.3:n.9570+1G>A
ENST00000674083.1:c.9570+1G>A	ENSP00000501296.1:n.9570+1G>A
ENST00000307340.7:c.9570+1G>A	ENSP00000305941.3:n.9570+1G>A
NM_206933.2:c.9570+1G>A	NP_996816.2:n.9570+1G>A
NM_206933.3:c.9570+1G>A	NP_996816.2:n.9570+1G>A
NM_206933.4:c.9570+1G>A MANE Select	NP_996816.3:n.9570+1G>A