Canonical Allele Identifier: CA1393690

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2058491
• ClinVar RCV Id: RCV002942355
• dbSNP Id: rs531240074
• ExAC: 1:215916520 A / G
• gnomAD v2: 1-215916520-A-G
• gnomAD v3: 1-215743178-A-G
• gnomAD v4: 1-215743178-A-G
• MyVariant Identifiers: chr1:g.215916520A>G (hg19) ; chr1:g.215743178A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215743178A>G , CM000663.2:g.215743178A>G	GRCh38
NC_000001.10:g.215916520A>G , CM000663.1:g.215916520A>G	GRCh37
NC_000001.9:g.213983143A>G	NCBI36
NG_009497.1:g.685219T>C
NG_009497.2:g.685271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11547T>C MANE Select	ENSP00000305941.3:p.Asn3849=
ENST00000674083.1:c.11547T>C	ENSP00000501296.1:p.Asn3849=
ENST00000307340.7:c.11547T>C	ENSP00000305941.3:p.Asn3849=
NM_206933.2:c.11547T>C	NP_996816.2:p.Asn3849=
NM_206933.3:c.11547T>C	NP_996816.2:p.Asn3849=
NM_206933.4:c.11547T>C MANE Select	NP_996816.3:p.Asn3849=