Canonical Allele Identifier: CA1393991

Gene: USH2A

Linked Data

• ClinVar Variation Id: 229614
• ClinVar RCV Id: RCV000217733 ; RCV000763829 ; RCV001274951 ; RCV001453428
• dbSNP Id: rs147374057
• ExAC: 1:215956101 T / C
• gnomAD v2: 1-215956101-T-C
• gnomAD v3: 1-215782759-T-C
• gnomAD v4: 1-215782759-T-C
• MyVariant Identifiers: chr1:g.215956101T>C (hg19) ; chr1:g.215782759T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782759T>C , CM000663.2:g.215782759T>C	GRCh38
NC_000001.10:g.215956101T>C , CM000663.1:g.215956101T>C	GRCh37
NC_000001.9:g.214022724T>C	NCBI36
NG_009497.1:g.645638A>G
NG_009497.2:g.645690A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10564A>G MANE Select	ENSP00000305941.3:p.Arg3522Gly
ENST00000674083.1:c.10564A>G	ENSP00000501296.1:p.Arg3522Gly
ENST00000307340.7:c.10564A>G	ENSP00000305941.3:p.Arg3522Gly
NM_206933.2:c.10564A>G	NP_996816.2:p.Arg3522Gly
NM_206933.3:c.10564A>G	NP_996816.2:p.Arg3522Gly
NM_206933.4:c.10564A>G MANE Select	NP_996816.3:p.Arg3522Gly